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Relevant bibliographies by topics / Autosomal recessive

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Academic literature on the topic 'Autosomal recessive'

Author: Grafiati

Published: 4 June 2021

Last updated: 6 February 2022

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Journal articles on the topic "Autosomal recessive"

1

Mahdi, Awad H. "Autosomal Recessive Osteopetrosis." Annals of Saudi Medicine 14, no. 2 (March 1994): 102–6. http://dx.doi.org/10.5144/0256-4947.1994.102.

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Boon, Camiel J. F., L. Ingeborgh van den Born, Linda Visser, Jan E. E. Keunen, Arthur A. B. Bergen, Judith C. Booij, Frans C. Riemslag, Ralph J. Florijn, and Mary J. van Schooneveld. "Autosomal Recessive Bestrophinopathy." Ophthalmology 120, no. 4 (April 2013): 809–20. http://dx.doi.org/10.1016/j.ophtha.2012.09.057.

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Altintaş, Ayşegül Koçak, Mehmet Akif Acar, Ilgaz Saĝdiç Yalvaç, Inci Koçak, Ayşe Nurözler, and Sunay Duman. "Autosomal recessive nanophthalmos." Acta Ophthalmologica Scandinavica 75, no. 3 (May 27, 2009): 325–28. http://dx.doi.org/10.1111/j.1600-0420.1997.tb00788.x.

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Bonifati, Vincenzo. "Autosomal recessive parkinsonism." Parkinsonism & Related Disorders 18 (January 2012): S4—S6. http://dx.doi.org/10.1016/s1353-8020(11)70004-9.

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Soutar, Anne K., and Rossitza P. Naoumova. "Autosomal Recessive Hypercholesterolemia." Seminars in Vascular Medicine 4, no. 03 (August 2004): 241–48. http://dx.doi.org/10.1055/s-2004-861491.

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D’Erasmo, Laura, Alessia Di Costanzo, and Marcello Arca. "Autosomal recessive hypercholesterolemia." Current Opinion in Lipidology 31, no. 2 (April 2020): 56–61. http://dx.doi.org/10.1097/mol.0000000000000664.

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Kalevar, Ananda, Judy J. Chen, H. Richard McDonald, and Arthur D. Fu. "AUTOSOMAL RECESSIVE BESTROPHINOPATHY." Retinal Cases & Brief Reports 12 (2018): S51—S54. http://dx.doi.org/10.1097/icb.0000000000000707.

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May, A. "Autosomal recessive disorders." BMJ 298, no. 6676 (March 25, 1989): 830. http://dx.doi.org/10.1136/bmj.298.6676.830-c.

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Baker, L. R., and T. C. Stamp. "Autosomal recessive hypophosphataemia." Archives of Disease in Childhood 64, no. 8 (August 1, 1989): 1209. http://dx.doi.org/10.1136/adc.64.8.1209-a.

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AL GAZASLI, L. I., and F. ABOU AL-ASAAD. "Autosomal recessive omodysplasia." Clinical Dysmorphology 4, no. 1 (January 1995): 52???56. http://dx.doi.org/10.1097/00019605-199501000-00007.

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Dissertations / Theses on the topic "Autosomal recessive"

1

Christodoulou, Kyproula. "Molecular genetics of autosomal recessive spinocerebellar ataxias." Thesis, University of London, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.244268.

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Virolainen, Elina. "Molecular genetics of autosomal recessive congenital ichthyosis." Helsinki : University of Helsinki, 2000. http://ethesis.helsinki.fi/julkaisut/laa/kliin/vk/virolainen/.

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Nommiste, B. "A model system of autosomal-recessive bestrophinopathy." Thesis, University College London (University of London), 2016. http://discovery.ucl.ac.uk/1476812/.

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Mutations in the bestrophin 1 (BEST1) gene lead to a variety of bestrophinopathies. To identify the exact location and function of BEST1 is key to understanding the mechanisms that cause bestrophinopathies. Thus, it was decided to study autosomal-recessive bestrophinopathy (ARB), a distinct inherited bestrophinopathy caused by BEST1, a protein located in the retinal pigment epithelium (RPE), which is a monolayer of epithelial cells located at the back of the eye between the photosensitive retinal layer and the choroid. The RPE closely interacts with the photoreceptor layer. Hence, mutations in BEST1 cause the RPE to dysfunction, which in turn leads to photoreceptor degeneration and eventual blindness. The ARB mutation studied in this thesis is a pR200X mutation that is a premature stop mutation causing alteration in the RPE and subretinal deposits in the macular area. Currently, patients with bestrophinopaties, such as ARB, do not have any available treatments and loss of vision cannot be prevented. As mentioned earlier, resolving the exact location and function of the BEST1 in the RPE is a crucial step in identifying therapies for these patient groups and understanding the pathology underlying bestrophinopathies. Human induced pluripotent stem cells (hiPSCs) are a promising source of cells to model a patient-specific disease in vitro and identify potential therapies. It has been previously demonstrated that RPE could be produced from the iPSCs and human embryonic stem cells (hESCs). Thus, in order to understand the role of BEST1 in RPE cells iPSCs were created from pR200X patient fibroblasts by reprogramming with episomal vectors (C-MYC, KLF4, LIN28, OCT4 and SOX2). iPSC colonies were isolated and expanded. After optimising the stem cell culture methods for patient-specific iPSCs, the iPSCs were differentiated into RPE by a mainly spontaneous differentiation method with an initial burst of activin A. After approximately 6 weeks pigmented foci were purified by manual dissection and cells were seeded to encourage monolayer formation. Patient iPSCs and iPSC-derived RPE cells were assessed by standard molecular and cellular protocols, including immunocytochemistry, electron microscopy, western blots, PCR and teratoma assay, in comparison to the control iPSCs and iPSC-derived RPE cells. To assess any functional abnormalities in the pR200X iPSC-derived RPE cells transepithelial resistance, phagocytosis and patch-clamping experiments were performed on patient and control iPSC-derived RPE. Additionally, gene therapy was investigated as a potential therapeutic option for the bestrophinopathy patients with a premature stop mutation.

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El-Aziz, El-Anwar Saad Mai Mohamed Abd. "Molecular genetics of autosomal recessive retinitis pigmentosa." Thesis, University College London (University of London), 2007. http://discovery.ucl.ac.uk/1446073/.

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Autosomal recessive retinitis pigmentosa (arRP) is one of the commonest forms of monogenic retinal degeneration (RD). To date, 24 loci have been implicated in the pathogenesis of arRP. The genes for five of these loci (RP22, RP25, RP28, RP29 and RP32), still remain to be identified. This thesis mainly focused on the cloning of a major gene (RP25) however identifying novel loci for recessive RP constituted a significant objective. Originally the RP25 locus was mapped to chromosome 6pl2.1-ql5, a region that spans 34 Mb, by our collaborators in Seville in seven Spanish families. Initially, a whole-genome scan in these families was undertaken using GeneChip 10K array. The data obtained confirmed the initial findings of linkage to the RP25 region. To date, 61 out of 111 genes within the interval (-55%) have been excluded as disease causing by direct sequence analysis. A large number of single nucleotide polymorphisms (SNPs), of which a significant percentage was novel were identified. We have also postulated that both RP25 and Leber congenital amaurosis 5 (LCA5), a severe form of RD, could be due to the same genetic defect since they genetically overlap. Therefore, seventeen LCA families were genotyped to identify new LCA5 families that may further refine the RP25 interval by identifying novel crossovers. However, the gene for LCA5 has been recently cloned and sequence analysis of the RP25 families rules out this gene as causative of RP25. To investigate if copy number variations (CNVs) exist within the RP25 interval, a comparative genome hybridisation (CGH) was performed on one of the RP25 families (RP5). A clone from the tiling path, chr6tp-19C7, within 6ql2 was observed to be deleted in all affected members of this family indicating that one of the genes within this interval could be responsible for the RP25 phenotype. A novel approach utilising the 10K GeneChip for identifying the disease locus in three non-consanguineous Chinese families with arRP was implemented. The studied families were probably linked to the RP25 locus proposing that this approach could be a useful tool for genetic mapping in cases of rare and genetically heterogeneous recessive traits. Finally, in parallel, a genomewide linkage search in a consanguineous family with arRP was undertaken. Linkage to a 10-cM interval on chromosome 10q23.1-23.3 was observed where a good candidate gene, protocadherin-21 (PCDH21), is located. A homozygous 1-bp deletion was identified in this family in addition to two other novel mutations in two different patients raising the possibility that PCDH21 is likely to be a novel gene for RP.

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Kurian, Manju Ann. "Molecular genetic investigation of autosomal recessive neurodevelopmental disorders." Thesis, University of Birmingham, 2010. http://etheses.bham.ac.uk//id/eprint/1126/.

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Development of the human brain occurs in a number of complex pre- and postnatal stages which are governed by both genetic and environmental factors. Aberrant brain development due to inherited defects may result in a wide spectrum of neurological disorders which are commonly encountered in the clinical field of paediatric neurology. In the work for this thesis, I have investigated the molecular basis and defined the clinical features of three autosomal recessive neurological syndromes. I studied a cohort of children with early onset epileptic encephalopathy and, in one family, identified a novel homozygous pathogenic mutation of PLCB1. I have also utilised autozygosity mapping techniques to study consanguineous families with a complex motor disorder, infantile parkinsonism-dystonia, and identified loss-of function mutations in the gene encoding the dopamine transporter (SLC6A3). Subsequent acquisition of a cohort of similarly affected children allowed detailed clinical and molecular characterisation of this novel disorder, dopamine transporter deficiency syndrome. Finally I have delineated the clinical and genetic features of PLA2G6-associated neurodegeneration. The identification of disease-causing genes contributes greatly to understanding the disease mechanisms underlying such early-onset disorders, and also provides novel insights into normal human neurodevelopment.

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Alsaedi, Atif Saud. "Exome sequencing analysis of rare autosomal recessive disorders." Thesis, University of Birmingham, 2017. http://etheses.bham.ac.uk//id/eprint/7700/.

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Since the human genome project was completed in 2003, extraordinary progress has been made in the field of genomics with the development of new sequencing technologies and the widespread introduction of next generation sequencing (NGS). The application of NGS initiated a new era in genomics by massively increasing the number and diversity of the sequenced genomes at lower cost. Human Molecular Genetics has greatly benefited from the use of NGS-based strategies to identify human disease genes. In this thesis, I investigated the application of genetic techniques to investigate the molecular basis of autosomal recessively inherited disorders of unknown etiology. A range of disease phenotypes, including oligodontia and fetal akinesia/multiple pterygium syndrome (FA/MPS), were investigated in patient cohorts that included many cases with parental consanguinity. Using an autozygosity linkage analysis-based approach and Sanger sequencing of candidate genes resulted in the identification germline RYR1 mutations in FA/MPS. Subsequently, using exome sequencing techniques, the molecular basis of FA/MPS was further elucidated by the identification of germline mutations in RYR1, NEB, CHRNG, CHRNA1 and TPM2. The application of NGS in genetically heterogeneous disorders such as fetal akinesia/multiple pterygium syndrome can enable better and less expensive molecular diagnostic services aimed at specific mutation spectra, though more extensive sequencing can lead to the identification of larger numbers of variants of uncertain significance.

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Talbot, Kevin. "The molecular pathogenesis of autosomal recessive spinal muscular atrophy." Thesis, University of Oxford, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.300137.

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Sergouniotis, P. I. "Genetic and phenotypic heterogeneity in autosomal recessive retinal disease." Thesis, University College London (University of London), 2012. http://discovery.ucl.ac.uk/1352445/.

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Molecular genetics has transformed our understanding of disease and is gradually changing the way medicine is practiced. Genetic mapping provides a powerful approach to discover genes and biological processes underlying human disorders. Recent advances in DNA microarray and sequencing technology have significantly increased the power of genetic mapping studies and have ushered in a new era for biomedicine. In this thesis, linkage analysis (including homozygosity mapping), exome sequencing and candidate gene sequencing have been utilised to genetically dissect autosomal recessive retinal disease. Subsequently, clinical findings from patients found to be similar in terms of molecular pathology have been pooled. DNA and basic phenotypic data from over 500 unrelated individuals were available for the project. Disease-causing variants in three genes that have not been previously associated with human recessive disorders are reported: (a) biallelic mutations in TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness; (b) biallelic mutations in KCNJ13, a gene encoding an inwardly rectifying potassium channel subunit cause Leber congenital amaurosis; (c) biallelic mutations in PLA2G5, a gene encoding group V phospholipase A2, cause benign fleck retina. The consequences of mutations in these and other disease-related genes (RDH5, GRM6, KCNV2, OAT and SAG) on retinal structure (spectral domain optical coherence tomography, fundus autofluorescence imaging) and visual function (electrophysiology, perimetry testing) have been studied; features that may have mechanistic relevance have been identified. Additionally, DNA sequence variation of a highly polymorphic gene (C2ORF71), recently associated with photoreceptor degeneration, has been studied and quantified in patient and control samples. Basic bioinformatics tools to analyse genomic data have been developed (bash, perl, python and R programming languages). Overall, results presented in this thesis contribute to an understanding of Mendelian retinal disease that is not only observational but also mechanistic.

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Wood, Shaun Roger. "Development of AAV-mediated gene therapy for autosomal recessive bestrophinopathy." Thesis, University of Oxford, 2017. https://ora.ox.ac.uk/objects/uuid:e0925bc0-8f36-4a76-9366-bc7dc316c5af.

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The bestrophinopathies are a set of inherited retinal degenerations caused by mutations in BEST1, and include Best vitelliform macular dystrophy (BVMD), autosomal dominant vitreoretinochoroidopathy (ADVIRC) and autosomal recessive bestrophinopathy (ARB). The corresponding protein, bestrophin-1, is localised to the basolateral membrane of the retinal pigment epithelium (RPE), where it is thought to function as a Ca²⁺-activated Cl- channel. Currently, there are no treatments for these conditions. In recent years, gene therapy has emerged as an exciting treatment option for inherited retinal disorders (IRDs). Gene delivery to retinal cells using a recombinant adeno-associated virus (rAAV) has produced positive results in several IRDs. Given the recessive nature of ARB, this thesis proposes that the rAAV-mediated delivery of bestrophin-1 to the RPE could represent a potential therapy. The aims of this thesis were to produce and compare rAAV vectors in vitro and in vivo for protein expression, localisation following transduction, restoration of chloride conductance in vitro and safety following sub-retinal injection in vivo. Following the production of two rAAV vectors expressing bestrophin-1, western blots confirmed bestrophin-1 protein expression following transduction of HEK293 cells in vitro. Immunocytochemistry (ICC) revealed bestrophin-1 expression that was localised to the cytosol. Whole-cell patch-clamping revealed a significant increase in chloride conductance in HEK293 cells transduced with AAV-BEST1 vectors which was then ablated upon the removal of chloride from the buffers. Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS) indicated that the bestrophin-1 protein was successfully transcribed and translated from the BEST1 coding sequence (CDS). Sub-retinal injections of AAV-BEST1 produced bestrophin-1 expression in the RPE of wild-type C57BL/6 mice however significant retinal thinning was seen at higher doses of vector. In conclusion, rAAV-mediated transfer of bestrophin-1 to the RPE has potential to be a future therapy for ARB, however safety issues need to be addressed and an RPE-specific promoter could be more suitable.

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Bruford, Elspeth A. "A genetic analysis of autosomal recessive forms of retinitis pigmentosa." Thesis, University of Edinburgh, 1997. http://hdl.handle.net/1842/21656.

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The aim of this project was to identify loci for recessive forms of RP by genetic linkage analysis, using patients with arRP and BBS, and to test for mutations in any resultant candidate genes. Pedigrees with arRP from south-central Sardinia, an ethnic outlier with a higher prevalence of recessive disease, were studied initially. Linkage analysis was carried out using genome-wide microsatellite markers, and genetic heterogeneity was identified among the 11 families studied. Examination of the data revealed potential linkage to D14S80, on chromosome 14q11, in a subset of families. Fine mapping with further markers in this region identified a region of homozygosity in one consanguineous family, suggesting identity-by-descent. A strong candidate gene for RP, neural retina specific leucine zipper (NRL), was found to be located with the region of homozygosity. NRL codes for an evolutionarily conserved protein which is expressed in all layers of the neural retina, and is thought to have a role in the transcriptional regulation of retinal genes, including rhodopsin. The NRL gene was studied in the consanguineous family by direct sequencing and mutation analysis, but no mutations were identified within the coding region. A total of 28 BBS pedigrees collected worldwide were studied using markers in regions where linkage was established during the course of the study. These loci are located on chromosomes 11q13, 16q21, 3p13-p12 and 15q22.3-q23. The results revealed significant genetic heterogeneity, with most families showing linkage to 11q13, and others being consistent with linkage to the 16q or 15q chromosomal regions. Some of the larger pedigrees could be assigned to specific loci, but many of the smaller families were too small for a definite assignment. The results of multipoint linkage analyses in these three linked chromosomal regions will help narrow down the region of search for candidate genes.

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Books on the topic "Autosomal recessive"

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McKusick, Victor A. Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. 9th ed. Baltimore: Johns Hopkins University Press, 1990.

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Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive, and x-linked phenotypes. 7th ed. Baltimore: Johns Hopkins University Press, 1986.

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A, Francomano Clair, and Antonarakis Stylianos E, eds. Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. Baltimore: Johns Hopkins University Press, 1992.

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Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. 8th ed. Baltimore: Johns Hopkins University Press, 1988.

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Bergmann, Carsten, and Klaus Zerres. Autosomal recessive polycystic kidney disease. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0313.

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Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal- and liver-related morbidity and mortality with variable disease expression. Many patients manifest peri- or neonatally with a mortality rate of 30–50%, whereas others survive to adulthood with only minor clinical features. ARPKD is typically caused by mutations in the PKHD1 gene that encodes a 4074-amino acid type 1 single-pass transmembrane protein called fibrocystin or polyductin. Fibrocystin/polyductin is among other cystoproteins expressed in primary cilia, basal bodies, and centrosomes, but its exact function has still not been fully unravelled. Mutations were found to be scattered throughout the gene with many of them being private to single families. Correlations have been drawn for the type of mutation rather than for the site of the individual mutation. Virtually all patients carrying two truncating mutations display a severe phenotype with peri- or neonatal demise while surviving patients bear at least one hypomorphic missense mutation. However, about 20–30% of all sibships exhibit major intrafamilial phenotypic variability and it becomes increasingly obvious that ARPKD is clinically and genetically much more heterogeneous and complex than previously thought.

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Hand, Collette K. Localisation of the gene for autosomal recessive congenital hereditary endothelial dystrophy. 1998.

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Shakkottai, Vikram G. Ataxias. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0014.

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Autosomal recessive cerebellar ataxias are a group of inherited neurological disorders with progressive balance and gait difficulties. In these disorders, cerebellar ataxia is often accompanied by eye movement abnormalities and peripheral nervous system involvement. A unifying mechanism for disease pathogenesis that is common to all the recessive ataxias likely does not exist. Nevertheless, some pathophysiological pathways are common to several autosomal recessive cerebellar ataxias. Specific gene defects in each disorder are summarized in the chapter. The most common recessively inherited ataxias are Friedreich ataxia and Ataxia telangiectasia. A recessive ataxia must be considered for any individual with progressive cerebellar ataxia with onset less than 30 years. The treatment is primarily supportive, but some recessive ataxias have specific treatment.

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Foggensteiner, Lukas, and Philip Beales. Bardet–Biedl syndrome and other ciliopathies. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0314.

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Ciliopathies encompass a genotypically complex and phenotypically variable and overlapping series of disorders that makes the general term ‘ciliopathies’ very useful. The genes behind these conditions encode parts of the machinery of the primary cilium. This is also true of the major cystic kidney disorders autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease, but the ‘long tails’ of other ciliopathies are characterized by variable nephropathy (often without cyst formation), retinopathy, and effects on brain and skeletal development. Not all have substantial renal phenotypes. Bardet–Biedl syndrome (BBS) is an autosomal dominant condition characterized by obesity, retinopathy, nephropathy, and learning difficulty, but renal abnormalities are varied and end-stage renal failure occurs in only a minority. Many BBS genes have been described. Alström syndrome is a rare recessive disorder again associated with obesity and retinopathy, but also deafness and dilated cardiomyopathy. Renal failure is a common but later feature. Joubert syndrome is an autosomal dominant condition but can arise from mutations in at least 10 genes. It has a wide phenotypic variation with a common link being hypodysplasia of the cerebellar vermis and other abnormalities giving rise to the ‘molar tooth sign’ on cerebral magnetic resonance imaging scanning, associated with hypotonia in infancy, central ataxia, ocular apraxia, developmental delay, and varying degrees of cognitive impairment. Jeune syndrome is a recessive condition characterized by osteochondrodysplasia which can give rise to hypodevelopment of the chest wall known as suffocating thoracic dystrophy, in addition to other manifestations.

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Keshav, Satish, and Palak Trivedi. Genetic liver disease. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0214.

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This chapter discusses three of the major inherited forms of liver disease (all autosomal recessive): hereditary haemochromatosis, Wilson’s disease, and alpha-1-antitrypsin deficiency. Hereditary haemochromatosis is characterized by excessive absorption of dietary iron, with a pathological increase in total body iron that accumulates in tissues and organs, disrupting their function. Wilson’s disease (hepatolenticular degeneration) is an autosomal recessive genetic disorder in which copper accumulates in tissues. Alpha-1-antitrypsin deficiency is characterized by reduced circulating levels of alpha-1-antitrypsin, a liver-derived protease inhibitor, and accumulation within the hepatocytes of the abnormal, poorly degraded protein; the consequent excessive activity of proteases such as elastase in pulmonary alveoli, unopposed by protease inhibitors, leads to emphysema, and the accumulation of alpha-1-antitrypsin in hepatocytes causes liver dysfunction.

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Bergmann, Carsten, Nadina Ortiz-Brüchle, Valeska Frank, and Klaus Zerres. The child with renal cysts. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0305.

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Renal cysts of different aetiology are a common diagnosis in paediatric nephrology. The classification is usually based on the clinical picture, morphology, and family history. In syndromic forms, additional features have to be evaluated. Most common are cystic dysplastic kidneys with a broad phenotypic spectrum ranging from asymptomatic clinical courses in unilateral cases to severe, lethal manifestations in patients with considerable bilateral involvement. Simple cysts are rare. Polycystic kidneys are usually subdivided according to the mode of inheritance into autosomal recessive and autosomal dominant polycystic kidney disease. The most useful investigation in order to distinguish between these two types is the family history with parental ultrasound and demonstration of polycystic kidneys in one parent in the majority of cases with dominant polycystic kidney disease. Finally, cystic kidneys are associated with a variety of hereditary, usually recessive syndromes affecting cilia.

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Book chapters on the topic "Autosomal recessive"

1

Ng, Matthew, and Drew M. Horlbeck. "Autosomal Recessive." In Encyclopedia of Otolaryngology, Head and Neck Surgery, 220. Berlin, Heidelberg: Springer Berlin Heidelberg, 2013. http://dx.doi.org/10.1007/978-3-642-23499-6_200018.

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Beaudin, Marie, and Nicolas Dupré. "Autosomal Recessive Ataxias." In Essentials of Cerebellum and Cerebellar Disorders, 545–51. Cham: Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-24551-5_73.

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Scharnagl, Hubert, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, et al. "Autosomal Recessive Pseudohypoaldosteronism." In Encyclopedia of Molecular Mechanisms of Disease, 197. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_8069.

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Braun-Falco, Markus, Henry J. Mankin, Sharon L. Wenger, Markus Braun-Falco, Stephan DiSean Kendall, Gerard C. Blobe, Christoph K. Weber, et al. "Pseudohypoaldosteronism, Autosomal Recessive." In Encyclopedia of Molecular Mechanisms of Disease, 1742–43. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_3394.

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Braun-Falco, Markus, Henry J. Mankin, Sharon L. Wenger, Markus Braun-Falco, Stephan DiSean Kendall, Gerard C. Blobe, Christoph K. Weber, et al. "Plectin Autosomal Recessive." In Encyclopedia of Molecular Mechanisms of Disease, 1656. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_8436.

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Scharnagl, Hubert, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, et al. "Autosomal Recessive Pseudohypoaldosteronism." In Encyclopedia of Molecular Mechanisms of Disease, 196. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_9064.

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Noreau, Anne, Nicolas Dupré, Jean-Pierre Bouchard, Patrick A. Dion, and Guy A. Rouleau. "Autosomal Recessive Cerebellar Ataxias." In Handbook of the Cerebellum and Cerebellar Disorders, 2177–91. Dordrecht: Springer Netherlands, 2013. http://dx.doi.org/10.1007/978-94-007-1333-8_100.

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Scharnagl, Hubert, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, et al. "Autosomal Recessive Congenital Ichthyosis." In Encyclopedia of Molecular Mechanisms of Disease, 196. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6020.

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Scharnagl, Hubert, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, et al. "Autosomal Recessive Endosteal Hyperostosis." In Encyclopedia of Molecular Mechanisms of Disease, 197. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_7473.

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Haj Salem, Ikhlass, Anne Noreau, Jean-Pierre Bouchard, Patrick A. Dion, Guy A. Rouleau, and Nicolas Dupré. "Autosomal Recessive Cerebellar Ataxias." In Handbook of the Cerebellum and Cerebellar Disorders, 1–18. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-319-97911-3_100-2.

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Conference papers on the topic "Autosomal recessive"

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Kambouris, Marios, Yasser Al-sarraj, Hibah Shaath, Fouad Alshaban, Mohamed Tolefat, Vasiliki Chini, Valentin Ilyin, and Hatem El-shanti. "A Mutation In MYO1A Causes Autosomal Recessive Autism Spectrum Disease." In Qatar Foundation Annual Research Conference Proceedings. Hamad bin Khalifa University Press (HBKU Press), 2014. http://dx.doi.org/10.5339/qfarc.2014.hbpp0434.

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Root, Heather B., Meral Gunay-Aygun, and Kenneth N. Olivier. "Screening For Respiratory Ciliary Dysfunction In Autosomal Recessive Polycystic Kidney Disease." In American Thoracic Society 2011 International Conference, May 13-18, 2011 • Denver Colorado. American Thoracic Society, 2011. http://dx.doi.org/10.1164/ajrccm-conference.2011.183.1_meetingabstracts.a6346.

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Plank, Roswitha, Katja Obst, Guy Yealland, Marcelo Calderón, Sarah Hedtrich, Katja Martina Eckl, and Hans Christian Hennies. "Nanogel-Mediated Protein Replacement Therapy for Autosomal Recessive Congenital Ichthyosis (ARCI)." In The World Congress on Recent Advances in Nanotechnology. Avestia Publishing, 2016. http://dx.doi.org/10.11159/nddte16.105.

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Chini, Vasiliki, Yasser Al Sarraj, Michael Trese, Hatem El Shanti, and Marios Kambouris. "A Novel Homozygous Lrp5 Splice-site Deletion Mutation Causes Syndromic Autosomal Recessive Familial Exudative Vitreoretinopathy." In Qatar Foundation Annual Research Conference Proceedings. Hamad bin Khalifa University Press (HBKU Press), 2014. http://dx.doi.org/10.5339/qfarc.2014.hbpp0727.

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Karacan, I., SN Esatoglu, E. Tahir Turanlı, A. Tolun, and E. Seyahi. "THU0024 Whole genome linkage and exome sequencing analyses in an autosomal recessive takayasu arteritis family." In Annual European Congress of Rheumatology, 14–17 June, 2017. BMJ Publishing Group Ltd and European League Against Rheumatism, 2017. http://dx.doi.org/10.1136/annrheumdis-2017-eular.6370.

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Zaqout, Sami, Lena-Luise Becker, Ayman Mustafa, Nadine Krame, Ulf Strauss, and Angela M. Kaindl. "Role of Cdk5rap2 in neocortical inhibition and excitation balance." In Qatar University Annual Research Forum & Exhibition. Qatar University Press, 2020. http://dx.doi.org/10.29117/quarfe.2020.0117.

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Autosomal recessive primary microcephaly type 3 (MCPH3) is characterized by congenital microcephaly and intellectual disability. Further features include hyperactivity and seizures. The disease is caused by biallelic mutations in the Cyclin-dependent kinase 5 regulatory subunit-associated protein 2 gene CDK5RAP2. In the mouse, Cdk5rap2 mutations similarly result in reduced brain size and a strikingly thin neocortex already at early stages of neurogenesis that persists through adulthood. The microcephaly phenotype in MCPH arises from a neural stem cell proliferation defect. Here, we report a novel role for Cdk5rap2 in the regulation of dendritic development and synaptogenesis of neocortical layer 2/3 pyramidal neurons using a combined morphological and electrophysiological approach

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Kambouris, Marios, Hibah Shaath, Abeer Fadda, Yasser Al-Sarraj, Sara Tomei, Wang Ena, and Hatem El-Shanti. "OFD1 Missense Mutation Causes an Autosomal Recessive Dyskeratosis Congenita-Like Disorder Further Complicating the Clinical Heterogeneity of OFD1 Mutations." In Qatar Foundation Annual Research Conference Proceedings. Hamad bin Khalifa University Press (HBKU Press), 2016. http://dx.doi.org/10.5339/qfarc.2016.hbpp2575.

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Giltay, J. C., O. C. Leeksma, C. Breederveld, and J. A. van Mourik. "NORMAL SYNTHESIS AND EXPRESSION OF ENDOTHELIAL GP IIb/IIIa IN GLANZMANN'S THROMBASTENIA." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1642817.

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In Glanzmann’s thrombastenia (GT), an autosomal recessive inherited hemorrhagic disease, the platelet membrane glycoprotein (GP) IIb/IIIa complex is absent or reduced. Recently we and others demonstrated that cultured human umbilical vein endothelial cells synthesize a membrane protein complex that is structurally closely related to GP IIb/IIIa. Endothelial cells of thrombasthénie patients could, therefore be deficient in GP IIb/IIIa. We had the opportunity to culture endothelial cells isolated from the umbilical cord of a newborn with GT and to examine the plasma membrane composition of these cells. Employing a variety of immunochemical techniques, including immunoprecipitation, immunofluorescence staining and crossed immunoelectrophoresis, we demonstrated that the endothelial cells of the patient were indistinguishable from normal endothelial cells in their ability to synthesize and express GP IIb/IIIa. Our results indicate that GT is not accompanied by and "endotheliopathy".Zwa (P1A1) is an alloantigen, located on platelet GP IIIa, and, consequently, Zwa is absent on GT platelet. Data will he presented which show that not only normal endothelial IIIa carries the Zwa antigen, hut also GT endothelial cells normally express Zwa. This finding supports our view that GT endothelial GP IIb/IIIa is indistinguishable from normal endothelial GP IIb/IIIa. Moreover, this finding directly shows that the thrombastenic glycoprotein abnormality and the inheritance of Zwa antigen are controlled by different genes.

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Sánchez-Albisua, Iciar, Nuria Brämswig, Adela Marina, Heike Kölbel, Katrin Rupprich, Alma Küchler, Tim Strom, Hermann Luedecke, Dagmar Wieczorek, and Ulrike Schara. "P 308. Autosomal Recessive Mutations in the NALCN Gene: A Rare Cause of a Severe Developmental Disorder with Facial Dysmorphia, Epilepsy and Cheyne–Stokes/Biot’s Respiration with Central Apneas." In Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2018. http://dx.doi.org/10.1055/s-0038-1675994.

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JakloyazAy, A. M., and Oa H. dnagy. "CONGENITAL AFIBRINOGENAEMIA: DIAGNOSIS, CLINICAL FEATURES, FOLLOW-UP STUDY." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644856.

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Authors followed 6 cases of congenital afibrinogenae- mia (CA) by offsprings of two apparently unrelated families from the same village. The sex ratio was4.m/3.f. CA is a rare autosomal recessive disease. Controlling 76 family members authors detected 11 cases of moderate and 2 cases of severe hypofibrinogeneemia.Among them-without any bleeding tendency-the mother of one case and both parents of two siblings with CA*The lack of fibrinogen was confirmed biochemically and immunologically too. The only symptom ofthe Illness are the severe posttraumatic bleeding. They appear as epistax- is, bleeding of the gums, or anyother bleeding aiter minor or severe injuries*Intraarticular bleeding, as in haemophilia rarely occurs inCA. One of our patients had profuse haematurias, causedby renal calculi. The only therapy is the substitution with transfusions of fresh blood, plasma, or fibrinogen concentrates*The rise of posttransfusional lllnisses grows with the number of transfusions*Stomatological or surgical interventions could be performed only after correction of the dotting abnormalitySo, one of our patients was submitted to splenectomyfor spontaneous rupture at 12 years and to nephrectomy for severe pyelo-caliceal cal- culosis with 19.He recovered fully after both interventions but died at 21 years after a bicycle accidenti The five other patients deceased at the age of 5«resp. 10 months and at 6-lo-resp 12 years. In 3 cases there was a subdural hammorrhage, once an intracranial blee- dingCnon autopsiated)and once a severe intraabdoml- nal haemorrhage after an accidental traumatism of the abdominal wall. The care of the CA cases is mostly a pediatric proble. The frequency of the pottraumatic bleeding decrease with the growth*The schoolchildren are paying more attention to avoid injuries

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