Bibliographies thématiques / 12q24 haplotype

Littérature scientifique sur le sujet « 12q24 haplotype »

Auteur : Grafiati
Publié le 10 mars 2023

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Articles de revues sur le sujet "12q24 haplotype"

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Wakil, Salma M., Nzioka P. Muiya, Asma I. Tahir, Mohammed Al-Najai, Batoul Baz, Editha Andres, Nejat Mazhar et al. « A New Susceptibility Locus for Myocardial Infarction, Hypertension, Type 2 Diabetes Mellitus, and Dyslipidemia on Chromosome 12q24 ». Disease Markers 2014 (2014) : 1–10. http://dx.doi.org/10.1155/2014/291419.

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We examined the role of hepatic nuclear factor-1 alpha (HNF1a) gene polymorphism on coronary artery disease (CAD) traits in 4631 Saudi angiographed individuals (2419 CAD versus 2212 controls) using TaqMan assay on ABI Prism 7900HT sequence detection system. Following adjustment for confounders, the rs2259820_CC (1.19 (1.01–1.42);P=0.041), rs2464196_TT (1.19 (1.00–1.40);P=0.045), and rs2259816_T (1.13 (1.01–1.26);P=0.031) were associated with MI. The rs2259820_T (1.14 (1.03–1.26);P=0.011) and rs2464196_C (1.12 (1.02–1.24);P=0.024) were associated with type 2 diabetes mellitus (T2DM), while the rs2393791_T (1.14 (1.01–1.28);P=0.032), rs7310409_G (1.16 (1.03–1.30);P=0.013), and rs2464196_AG+GG (1.25 (1.05–1.49);P=0.012) were implicated in hypertension. Hypertriglyceridemia was linked to the rs2393791_T (1.14 (1.02–1.27);P=0.018), rs7310409_G (1.12 (1.01–1.25);P=0.031), rs1169310_G (1.15 (1.04–1.28);P=0.010), and rs1169313_CT+TT (1.24 (1.06–1.45);P=0.008) and high low density lipoprotein-cholesterol levels were associated with rs2259820_T (1.23 (1.07–1.41);P=0.004), rs2464196_T (1.22 (1.06–1.39);P=0.004), and rs2259816_T (1.18 (1.02–1.36);P=0.023). A 7-mer haplotype CATATAC (χ2=7.50;P=0.0062), constructed from the studied SNPs, was associated with MI, and CATATA implicated in T2DM (χ2=3.94;P=0.047). Hypertriglyceridemia was linked to TGCGGG (χ2=4.26;P=0.039), and obesity to ACGGGT (χ2=5.04;P=0.025). Our results suggest that theHNF1ais a common susceptibility gene for MI, T2DM, hypertension, and dyslipidemia.
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Degn, B., M. D. Lundorf, A. Wang, M. Vang, O. Mors, T. A. Kruse et H. Ewald. « Further evidence for a bipolar risk gene on chromosome 12q24 suggested by investigation of haplotype sharing and allelic association in patients from the Faroe Islands ». Molecular Psychiatry 6, no 4 (juillet 2001) : 450–55. http://dx.doi.org/10.1038/sj.mp.4000882.

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Apostolou, P., M. Pertesi, V. Aleporou‐Marinou, C. Dimitrakakis, C. Papadimitriou, E. Razis, C. Christodoulou et al. « Haplotype analysis reveals that the recurrent BRCA1 deletion of exons 23 and 24 is a Greek founder mutation ». Clinical Genetics 91, no 3 (22 août 2016) : 482–87. http://dx.doi.org/10.1111/cge.12824.

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Linnebank, Michael, Miroslav Janosik, Viktor Kozich, Ewa Pronicka, Jolanta Kubalska, Jitka Sokolova, Anja Linnebank et al. « The cystathionine ?-synthase (CBS) mutation c.1224-2A>C in Central Europe : Vitamin B6 nonresponsiveness and a common ancestral haplotype ». Human Mutation 24, no 4 (2004) : 352–53. http://dx.doi.org/10.1002/humu.9280.

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Kalsi, Gursharan, Andrew McQuillin, Birte Degn, Mikkel D. Lundorf, Nicholas J. Bass, Jacob Lawrence, Khalid Choudhury et al. « Identification of the Slynar Gene (AY070435) and Related Brain Expressed Sequences as a Candidate Gene for Susceptibility to Affective Disorders Through Allelic and Haplotypic Association With Bipolar Disorder on Chromosome 12q24 ». American Journal of Psychiatry 163, no 10 (octobre 2006) : 1767–76. http://dx.doi.org/10.1176/ajp.2006.163.10.1767.

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Raballah, Evans, Samuel B. Anyona, Qiuying Cheng, Elly O. Munde, Ivy-Foo Hurwitz, Clinton Onyango, Caroline Ndege et al. « Complement component 3 mutations alter the longitudinal risk of pediatric malaria and severe malarial anemia ». Experimental Biology and Medicine, 29 novembre 2021, 153537022110562. http://dx.doi.org/10.1177/15353702211056272.

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Severe malarial anemia (SMA) is a leading cause of childhood morbidity and mortality in holoendemic Plasmodium falciparum transmission regions. To gain enhanced understanding of predisposing factors for SMA, we explored the relationship between complement component 3 (C3) missense mutations [rs2230199 (2307C>G, Arg>Gly102) and rs11569534 (34420G>A, Gly>Asp1224)], malaria, and SMA in a cohort of children (n = 1617 children) over 36 months of follow-up. Variants were selected based on their ability to impart amino acid substitutions that can alter the structure and function of C3. The 2307C>G mutation results in a basic to a polar residue change (Arg to Gly) at position 102 (β-chain) in the macroglobulin-1 (MG1) domain, while 34420G>A elicits a polar to acidic residue change (Gly to Asp) at position 1224 (α-chain) in the thioester-containing domain. After adjusting for multiple comparisons, longitudinal analyses revealed that inheritance of the homozygous mutant (GG) at 2307 enhanced the risk of SMA (RR = 2.142, 95%CI: 1.229–3.735, P = 0.007). The haplotype containing both wild-type alleles (CG) decreased the incident risk ratio of both malaria (RR = 0.897, 95%CI: 0.828–0.972, P = 0.008) and SMA (RR = 0.617, 95%CI: 0.448–0.848, P = 0.003). Malaria incident risk ratio was also reduced in carriers of the GG (Gly102Gly1224) haplotype (RR = 0.941, 95%CI: 0.888–0.997, P = 0.040). Collectively, inheritance of the missense mutations in MG1 and thioester-containing domain influence the longitudinal risk of malaria and SMA in children exposed to intense Plasmodium falciparum transmission.
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Aron Badin, Romina, Aurore Bugi, Susannah Williams, Marta Vadori, Marie Michael, Caroline Jan, Alberto Nassi et al. « MHC matching fails to prevent long-term rejection of iPSC-derived neurons in non-human primates ». Nature Communications 10, no 1 (25 septembre 2019). http://dx.doi.org/10.1038/s41467-019-12324-0.

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Abstract Cell therapy products (CTP) derived from pluripotent stem cells (iPSCs) may constitute a renewable, specifically differentiated source of cells to potentially cure patients with neurodegenerative disorders. However, the immunogenicity of CTP remains a major issue for therapeutic approaches based on transplantation of non-autologous stem cell-derived neural grafts. Despite its considerable side-effects, long-term immunosuppression, appears indispensable to mitigate neuro-inflammation and prevent rejection of allogeneic CTP. Matching iPSC donors’ and patients’ HLA haplotypes has been proposed as a way to access CTP with enhanced immunological compatibility, ultimately reducing the need for immunosuppression. In the present work, we challenge this paradigm by grafting autologous, MHC-matched and mis-matched neuronal grafts in a primate model of Huntington’s disease. Unlike previous reports in unlesioned hosts, we show that in the absence of immunosuppression MHC matching alone is insufficient to grant long-term survival of neuronal grafts in the lesioned brain.
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Thèses sur le sujet "12q24 haplotype"

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SPOLVERINI, AMBRA. « Analysis of polymorphic variants and new mutations in patients with Chronic Myeloporiliferative Neoplasms ». Doctoral thesis, 2013. http://hdl.handle.net/2158/796256.

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Studio del possibile ruolo dell'aplotipo 46/1 del gene JAK2 nella predisposizione allo sviluppo di leucemia mieloide cronica. Studio della frequenza di casi di LMC che presentano oltre al trascritto di fusione BCR/ABL la mutazione JAK2V617F. Studio del possibile ruolo di un aplotipo della regione 12q24 nella predisposizione genetica allo sviluppo di neoplasie mieloproliferative. Studio dell'incidenza di mutazioni di LNK in pazienti con eritrocitosi idiopatica. Studio del possibile ruolo delle proteine 14-3-3 nella patogenesi delle neoplasie mieloproliferative
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