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Dissertations / Theses on the topic 'Autosomal recessive'

Author: Grafiati

Published: 4 June 2021

Last updated: 26 July 2025

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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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2

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

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3

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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4

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 whol

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5

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 nov

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6

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 basi

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7

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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8

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 diseas

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9

De, Vos Michel. "Genetic and epigenetic studies of autosomal recessive predisposition to neoplasia." Thesis, University of Leeds, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.485772.

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The availability of comprehensive genetic and structural data on the human genome, far from signalling the end of the era of human genetics, has greatly increased the power of genetic approaches to biological and pathological questions. For autosomal recessive . disorders, homozygosity mapping has proved to be a powerful method for gene mapping and identification. In this thesis, linkage and molecular studies are described of two distinct disorders offamilial cancer predisposition. .' Through homo,zygosity mapping of rare cases ofAsian origin, an attempt has been made to refine the localisatio

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10

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 Ca<sup>2+</sup>-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 r

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11

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

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12

Hillermann, Renate. "Genetic and physical mapping studies of the Friereich's ataxia (FRDA) locus and mutational analysis of a novel candidate, STM7." Thesis, Imperial College London, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.264977.

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13

Bochukova, Elena G. "Expression of Wilson's disease genomic locus." Thesis, University of Oxford, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.275361.

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14

Chiu, Miliyun. "Galectin-3 and the development of autosomal recessive polycystic kidney disease." Thesis, University College London (University of London), 2007. http://discovery.ucl.ac.uk/1445364/.

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Galectin-3 is a β-galactoside-binding lectin implicated in renal collecting duct development and differentiation. Autosomal recessive polycystic kidney disease (ARPKD) affects 1 in 20,000 humans, and is characterised by cyst development from collecting ducts. Galectin-3 retards cystogenesis in at least 2 in vitro models. Hence, I hypothesised that endogenous galectin-3 may reduce cyst formation in vivo, and investigated this in the congenital polycystic kidney mouse (cpk), a well-characterised ARPKD model. Widespread galectin-3 expression was detected in cpk cyst epithelia in a distinct distri

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15

Eden, Emily Rose. "Investigation of a novel gene defect in patients with autosomal recessive hypercholesterolaemia." Thesis, Imperial College London, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.404425.

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16

Klein, Pontus. "Functions of GDNF/Ret signaling in models of autosomal recessive Parkinson’s disease." Diss., Ludwig-Maximilians-Universität München, 2011. http://nbn-resolving.de/urn:nbn:de:bvb:19-166901.

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17

Owen, Nicholas. "Molecular genetics of spinal muscular atrophy." Thesis, University of Oxford, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.342635.

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18

Bell, Rebecca Jane. "Genetics of x-linked and autosomal recessive hereditary nephropathy in the domestic dog." [College Station, Tex. : Texas A&M University, 2007. http://hdl.handle.net/1969.1/ETD-TAMU-2125.

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19

Alrayes, Nuha Mohammad. "Mutation analysis of autosomal recessive neurological disorders in consanguineous families from Saudi Arabia." Thesis, St George's, University of London, 2017. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.719148.

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The focus of this research project is the fundamentally important discovery of genetic mutations present in the Saudi Arabian population, concentrating mainly on offspring with neurological autosomal recessive disorders resulting from consanguineous marriages. The objective is to identify pathogenic gene variantsin known, novel, and potential candidate genes. In this research, microarrays were used for genome-wide homozygosity mapping to locate regions of homozygosity. This technique was followed with whole-exome sequencing to identify the causative gene located within the detected homozygous

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20

Jahns, (geb Issa) Lina [Verfasser]. "The role of CDK5RAP2 in autosomal recessive primary microcephaly (MCPH) / Lina Jahns (geb. Issa)." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2014. http://d-nb.info/1062949196/34.

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21

Bradshaw, Teisha Y. "The cellular phenotype of the neurodegenerative disease autosomal recessive spastic ataxia of Charlevoix-Saguenay." Thesis, Queen Mary, University of London, 2014. http://qmro.qmul.ac.uk/xmlui/handle/123456789/8924.

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Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS) is an early onset neurodegenerative disorder resulting from mutations in the SACS gene that encodes the protein sacsin. Sacsin is a 520kDa multi-domain protein localised at the cytosolic face of the outer mitochondrial membrane with suggested roles in proteostasis and most recently in the regulation of mitochondrial morphology. An excessively interconnected mitochondrial network was observed as a consequence of reduced levels of sacsin protein following SACS knockdown in neuroblastoma cells as well as in an ARSACS patient carry

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22

Sir, Joo-Hee. "Characterisation of the autosomal recessive primary microcephaly complex, CEP63-CEP152 in the vertebrate centrosome." Thesis, University of Cambridge, 2013. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.608038.

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23

Magwebu, Zandisiwe Emilia Z. E. "Molecular genetics: strategies to identify congenital cataract genes in captive-bred vervet monkeys." University of the Western Cape, 2013. http://hdl.handle.net/11394/4265.

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>Magister Scientiae - MSc<br>Molecular genetics: strategies to indentify congenital cataract genes in captive-bred Vervet monkeys Zandisiwe Emilia Magwebu MSc thesis, Department of Medical Biosciences, University of the Western Cape The present study describes molecular aspects of inherited congenital cataract in captive-bred Vervet monkeys. Congenital cataracts are lens opacities that are present at birth or soon after birth and include hereditary cataracts or cataracts caused by infectious agents. The MRC Primate Unit is housing a colony of captive-bred Vervet monkeys in which 7.5% is

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24

O'Driscoll, C. A. "Autosomal recessive retinitis pigmentosa, identification and partial characterisation of a novel gene implicated in RP25." Thesis, University College London (University of London), 2010. http://discovery.ucl.ac.uk/19499/.

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The purpose of this project is to identify the causative gene for one type of autosomal recessive retinitis pigmentosa, RP25. Through CGH (comparative genome hybridisation) and mutation screening, independent mutations were identified in arRP affected Spanish families mapping to RP25. These mutations were identified within a cluster of uncharacterised gene transcripts all which have EGF-like repeat domains; Q5T669, Q5T1H1, Q9H557_human, Q5TEL3_human, Q5TEL4_human, Q5VVG4_human, and Q5T3C8. Through 5` and 3` RACE PCR analysis, the full length gene was revealed to incorporate the EGFL11 gene. On

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25

Moradi, P. "Leber Congenital Amaurosis and other autosomal recessive retinal dystrophies : a clinical and molecular genetic study." Thesis, University College London (University of London), 2014. http://discovery.ucl.ac.uk/1455735/.

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Leber congenital amaurosis (LCA) and the early onset retinal dystrophies (EORD) are a spectrum of autosomal recessively inherited genetic conditions affecting children who have visual impairment starting under the age of five years. There are currently 19 known genes that account for approximately two thirds of cases. Only two of these 19 genes (IMPDH 1 and CRX; not studied in this project) have been found to cause autosomal dominant LCA. This genetic heterogeneity makes the identification of these causative genes expensive and time consuming. Phenotype-genotype correlations are therefore impo

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26

Ryan, Sean P. "Autosomal Recessive Polycystic Kidney Disease Epithelial Cell Model Reveals Multiple Basolateral EGF Receptor Sorting Pathways." Case Western Reserve University School of Graduate Studies / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=case1274887553.

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27

Kruczek, P. M. "Characterisation of interacting partner(s) for EYS, a major gene implicated in autosomal recessive retinitis pigmentosa." Thesis, University College London (University of London), 2015. http://discovery.ucl.ac.uk/1473377/.

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Mutations in EYS are a common cause of autosomal recessive retinitis pigmentosa (arRP). EYS is one of the largest genes expressed in the retina and the role of the protein it encodes is presently unclear. It has been shown, however, that EYS localises to the outer segments of porcine photoreceptors and that the Drosophila orthologue of EYS is essential in the biogenesis of the ommatidium, where it interacts with prominin, a highly conserved protein implicated in retinopathies. The aim of this project was to examine the role of EYS in the retina by investigating its subcellular localisation and

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28

Klein, Pontus [Verfasser], and Rüdiger [Akademischer Betreuer] Klein. "Functions of GDNF/Ret signaling in models of autosomal recessive Parkinson’s disease / Pontus Klein. Betreuer: Rüdiger Klein." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2011. http://d-nb.info/1048014614/34.

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29

Püttmann, Lucia [Verfasser]. "Identification and characterization of gene defects underlying autosomal recessive intellectual disability in two Iranian families / Lucia Püttmann." Berlin : Freie Universität Berlin, 2013. http://d-nb.info/1042441308/34.

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30

Pogue, Robert. "Genetic analysis as part of an integrated strategy for diagnosis in autosomal recessive limb-girdle muscular dystrophy." Thesis, University of Newcastle Upon Tyne, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.299052.

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31

Abera, Aron. "The molecular and cellular defect underlying autosomal recessive hypercholesterolemia (ARH) in the first kindred identified in South Africa." Master's thesis, University of Cape Town, 2005. http://hdl.handle.net/11427/3502.

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Includes bibliographical references (leaves 82-88).<br>Monogenic defects in the low density lipoprotein (LDL) uptake pathway occur commonly in South Africans, particularly in the Afrikaner community where inheritance is typically autosomal dominant, arising predominantly from abnormal structure and thus function of the LDL receptor (LDLr). Defects in LDLr binding domain of apolipopreteinB-100 (apoB-100) are rarely encountered and are know as Familial defective apoB-100 (FDB). Several critical proteins are active in the LDL uptake pathway and their deficiencies are now being shown to underlie t

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BEDINI, GLORIA. "Shwachman-Diamond Syndrome: an autosomal recessive inherited bone marrow failure disorder with defective angiogenesis and lymphoid lineage impairment." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2021. http://hdl.handle.net/10281/304798.

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La sindrome Shawachman-Diamond (SDS) è una malattia multi-organo caratterizzata da disfunzioni midollari ed insufficienza pancreatica. I pazienti SDS sono inoltre soggetti a sviluppo di anomalie ematologiche gravi, quali neutropenia, SMD e/o LMA. Nella prima parte di questo lavoro ci siano focalizzati sullo studio dell’alterata capacità angiogenica in vitro delle MSCs derivate da pazienti SDS. L’angiogenesi non coinvolge solo la patogenesi dei tumori solidi, ma anche lo sviluppo delle malattie ematologiche. Le MSCs sono in grado di supportare l’angiogenesi attraverso il differenziamento cellul

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33

Duncan, Emma Jane. "The neurodegenerative disease Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) : cellular defects due to loss of sacsin function." Thesis, Queen Mary, University of London, 2016. http://qmro.qmul.ac.uk/xmlui/handle/123456789/23110.

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Sacsin, which is mutated in the neurodegenerative disease Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS), is a 520 kDa modular protein with regions of homology to molecular chaperones and domains linking to the ubiquitin proteasome system. This suggests a role in proteostasis. Previously, sacsin has been shown to partially localise with mitochondria, and loss of sacsin results in elongated and dysfunctional mitochondria. Moreover, alterations in neurofilaments have recently been reported in a mouse model of ARSACS. Despite these findings, pathophysiological mechanisms of AR

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34

Olteanu, Dragos S. "Dysregulated ENAC and NHE function in cilium-deficient renal collecting duct cell monolayers a model of polycystic kidney disease /." Thesis, Birmingham, Ala. : University of Alabama at Birmingham, 2007. https://www.mhsl.uab.edu/dt/2009r/olteanu.pdf.

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35

Moheb, Lia Abbasi [Verfasser]. "Identification of three novel genes for autosomal recessive intellectual disability and molecular characterization of the causative defects / Lia Abbasi Moheb." Berlin : Freie Universität Berlin, 2012. http://d-nb.info/1026883849/34.

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36

Ropers, Fabienne [Verfasser]. "Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability : the WASH complex member SWIP / Fabienne Ropers." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2012. http://d-nb.info/1028496133/34.

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37

Almeida, Lorena Schneider. "Análise molecular do gene CRTAP através da técnica de PCR-SSCP-sequenciamento em pacientes com osteogênese imperfeita do Espírito Santo." Universidade Federal do Espírito Santo, 2013. http://repositorio.ufes.br/handle/10/5746.

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Made available in DSpace on 2016-12-23T13:49:03Z (GMT). No. of bitstreams: 1 Lorena Schneider Almeida.pdf: 683869 bytes, checksum: 550e76756dab14ae47e0e2440cfba6ca (MD5) Previous issue date: 2013-02-28<br>The Osteogenesis Imperfecta (OI) is a genetic disease characterized by structural defects of type I collagen protein or by reducing its biosynthesis causing decreased bone mass and predisposition to fractures and bone deformities. Approximately 90% of individuals with OI exhibit autosomal dominant inheritance caused by mutations in the genes COL1A1 and COL1A2. However, the number of genes l

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38

Majava, M. (Marja). "Molecular genetics of Stickler and Marshall syndromes, and the role of collagen II and other candidate proteins in high myopia and impaired hearing." Doctoral thesis, University of Oulu, 2007. http://urn.fi/urn:isbn:9789514283628.

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Abstract Stickler and Marshall syndromes are genetic disorders both inherited in an autosomal dominant manner. The genotype-phenotype correlation was performed in ten Stickler/Marshall syndrome patients with mutations in the COL11A1 gene. Four patients had a phenotype classified as Marshall syndrome based on early-onset severe hearing loss and characteristic facial dysmorphism. A splice site mutation in intron 50 of COL11A1 was found in these patients, while the remaining six patients had an overlapping Marshall-Stickler phenotype with a mutation elsewhere in the gene. These results indicate e

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39

Okoye, Chukwuebuka D., and Ayodeji Segun Bamisile. "Peculiarities of sickle cell anemia in patients with malaria in Africa." Thesis, Sumy State University, 2016. http://essuir.sumdu.edu.ua/handle/123456789/47876.

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Background. Sickle cell anemia is an autosomal recessive disease caused by a single point mutation in nucleobase sequence of chromosome 11 with substitution of glutamic acid by valine and formation of HbS is widespread in mainly African countries with prevalence of 20% - 30% in Cameroon, Republic of Congo, Gabon, Ghana, Nigeria and 45% in Uganda. Malaria on the other hand is an infection caused by a parasite (Plasmodium sp.) that is transmitted to humans by female anopheles mosquito and is prevalent in tropical and subtropical regions of Africa due to increased rainfall, constant high temperat

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40

Ghani-Kakhki, Mahdi [Verfasser]. "Molecular genetic and cytogenetic analyses of autosomal recessive primary microcephaly (MCPH) : mouse model, new locus and novel mutations / Mahdi Ghani-Kakhki." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2013. http://d-nb.info/1031099646/34.

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41

Tawamie, Hasan [Verfasser], André [Akademischer Betreuer] Reis, and Falk [Gutachter] Nimmerjahn. "Identification and characterization of candidate genes in individuals with autosomal recessive intellectual disability / Hasan Tawamie ; Gutachter: Falk Nimmerjahn ; Betreuer: André Reis." Erlangen : Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 2018. http://d-nb.info/1161184287/34.

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Lebeko, Kamogelo. "Genetic aetiology of autosomal recessive non-syndromic hearing loss in sub-Saharan African patients: evaluation using targeted and whole exome sequencing." Doctoral thesis, Faculty of Health Sciences, 2019. http://hdl.handle.net/11427/30376.

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Hearing Loss (HL) is one of the highest contributors to disability worldwide. The highest incidence of the disease is seen in developing countries, such as those in subSaharan Africa (SSA). Patients affected with disabling HL are reported to be more than 466 million worldwide. The causes of HL can either be environmental or genetic with each contributing about 50% towards all cases, in many settings. In developing countries, the environment might contribute more due to poor health services and infrastructure available to the population. In the absence of environmental causes, there is a geneti

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Elbaghir, Omer Elsayed Liena. "Hereditary spastic paraplegias : clinical spectrum in Sudan, further deciphering of the molecular bases of autosomal recessive forms and new genes emerging." Thesis, Paris 6, 2016. http://www.theses.fr/2016PA066056/document.

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Les paraplégies spastiques héréditaires (PSH) font partie d’un groupe plus large de pathologies neurodégénératives associant une spasticité. J’ai exploré la variabilité clinique et moléculaire de ces pathologies à l’aide d’une cohorte de familles soudanaises. Nous avons recruté 41 familles soudanaises [337 individus/106 atteints de PSH]. J’ai extrait l’ADN génomique et constitué une banque. Le criblage de gènes candidats a été réalisé dans 4 familles en fonction du phénotype des patients. La technologie de séquençage de nouvelle génération (SNG) appliquée à 74 gènes de PSH a ensuite été appliq

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44

Hussain, Muhammad Sajid [Verfasser], Peter [Akademischer Betreuer] Nürnberg, Angelika Anna [Akademischer Betreuer] Noegel, and Guenter [Akademischer Betreuer] Schwarz. "Molecular Genetic Analysis of Autosomal Recessive Primary Microcephaly in Pakistani Kindreds / Muhammad Sajid Hussain. Gutachter: Peter Nürnberg ; Angelika Anna Noegel ; Guenter Schwarz." Köln : Universitäts- und Stadtbibliothek Köln, 2011. http://d-nb.info/1038267080/34.

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Hauck, Fabian. "Primary T cell immunodeficiencies associated with disturbed proximal T cell receptor signalling caused by human autosomal recessive LCK, ZAP-70 and ITK-mutations." Phd thesis, Université René Descartes - Paris V, 2013. http://tel.archives-ouvertes.fr/tel-00914375.

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T lymphocytes express either a preTCR, or a clonotyoic γδ TCR or αβ TCR together with the CD3-complex and the associated ζ-chain. TCR:CD3:ζ-signalling is crucial for T cell development and antigen-specific activation including proliferation, differentiation, effector functions and apoptosis of mature T cells. Protein tyrosine kinase (PTK) cascades lie at the heart of proximal TCR:CD3:ζ-signalling. The CSK-, SRC-, SYK- and TEC-family members C-terminal SRC kinase (CSK), lymphocyte-specific protein tyrosine kinase (LCK), ζ-chain associated protein tyrosine kinase of 70 kDa (ZAP-70) and interleuk

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Garshasbi, Masoud [Verfasser]. "Identification of 31 genomic loci for autosomal recessive mental retardation and molecular genetic characterization of novel causative mutations in four genes / Masoud Garshasbi." Berlin : Freie Universität Berlin, 2010. http://d-nb.info/1023623978/34.

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47

Barnhart, Kirstin Faye. "In vitro and in vivo analysis of differential gene expression between normal norfolk terrier dogs and those with an autosomal recessive mutation in KRT10." Texas A&M University, 2004. http://hdl.handle.net/1969.1/2671.

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Natural diseases caused by keratin mutations are rare and have only been reported in humans. We have recently identified a heritable skin disorder in Norfolk terriers caused by a mutation in KRT10. Affected dogs have a tendency to form shallow erosions or blisters following mild trauma, which is first noted after the birthing process. As the dogs age, they display generalized hyperpigmentation and scaling that is most severe in the axillary and inguinal regions. The main histologic and ultrastructural features include: marked hyperkeratosis, epidermal hyperplasia, prominent vacuolation of the

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Guillet, Stéphanie. "Monogenic predisposition to systemic lupus erythematosus and efferocytosis Impaired efferocytosis and Systemic Lupus Erythematosus in patients with autosomal recessive ACK1 and BRK Kinases deficiencies." Thesis, Sorbonne Paris Cité, 2019. http://www.theses.fr/2019USPCB003.

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Le Lupus Erythemateux disséminé (LED) est un ensemble de maladies auto-immunes caractérisées par la présence d'anticorps anti-nucléaires. La pathogenèse du lupus est inconnue à ce jour et les mécanismes de la maladie pourraient être multiples. Dans ce travail nous reportons l'identification de variants autosomaux récessifs, pertes de function, dans le domaine kinase de ACK1 et BRK respectivement, chez des patients atteints de LED de 2 familles non apparentées. Utilisant des macrophages dérivés d'iPSCs similaires aux macrophages résidents exprimant TIM4, nous montrons que la forme sauvage de AC

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Esmaeeli-Nieh, Sahar [Verfasser]. "Identification and functional characterization of a genetic defect in the kinetochore protein BOD1 associated with autosomal recessive mental retardation and oligomenorrhea / Sahar Esmaeeli-Nieh." Berlin : Freie Universität Berlin, 2011. http://d-nb.info/1026173965/34.

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Motazacker, Mohammad Mahdi [Verfasser]. "Identification of novel genetic loci for non-syndromic autosomal recessive mental retardation and molecular genetic characterization of a causative GRIK2 mutation / Mohammad Mahdi Motazacker." Berlin : Freie Universität Berlin, 2008. http://d-nb.info/102325929X/34.

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