Zobrazeno 1 - 10
of 533
pro vyhledávání: '"Modifier gene"'
Publikováno v:
Disease Models & Mechanisms, Vol 16, Iss 5 (2023)
Externí odkaz:
https://doaj.org/article/02bc45df39b347a9acf513e55b060a37
Akademický článek
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Autor:
T Connor, M McPhillips, M Hipwell, A Ziolkowski, C Oldmeadow, M Clapham, PG Pockney, E Lis, T Banasiewicz, A Pławski, RJ Scott
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 19, Iss 1, Pp 1-9 (2021)
Abstract Background Familial adenomatous polyposis (FAP) is an autosomal dominant condition that predisposes patients to colorectal cancer. FAP is the result of a loss of APC function due to germline pathogenic variants disrupting gene expression. Ge
Externí odkaz:
https://doaj.org/article/4b2bbd7bdc654032bb56de9162d408d1
Autor:
Noam Auslander, Daniel M Ramos, Ivette Zelaya, Hiren Karathia, Thomas O. Crawford, Alejandro A Schäffer, Charlotte J Sumner, Eytan Ruppin
Publikováno v:
Molecular Systems Biology, Vol 16, Iss 12, Pp 1-17 (2020)
Abstract Modifier genes are believed to account for the clinical variability observed in many Mendelian disorders, but their identification remains challenging due to the limited availability of genomics data from large patient cohorts. Here, we pres
Externí odkaz:
https://doaj.org/article/3de22a2ac37c4d438a901282d752a3e5
Autor:
Sophie Giraud, Claire Bardel, Sophie Dupuis-Girod, Marie-France Carette, Brigitte Gilbert-Dussardier, Sophie Riviere, Jean-Christophe Saurin, Mélanie Eyries, Sylvie Patri, Evelyne Decullier, Alain Calender, Gaëtan Lesca
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)
Abstract Background Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by multiple telangiectases and caused by germline disease-causing variants in the ENG (HHT1), ACVRL1 (HHT2) and, to a lesser extent MADH4
Externí odkaz:
https://doaj.org/article/6cb683a8210448e4a726913c553472f1
Publikováno v:
Pulmonology, Vol 26, Iss 3, Pp 138-144 (2020)
Background: The phenotypic variability in cystic fibrosis (CF) is widely recognized and modulated by environmental and genetic factors, including CFTR pathogenic variants and modifier genes genetic variants. In this context, determining the presence
Externí odkaz:
https://doaj.org/article/d1899b5f514c440487b828afb024f7c7
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100822- (2021)
Phenylketonuria (PKU) is an inborn error of metabolism caused by variants in the phenylalanine hydroxylase (PAH) gene and it is characterized by excessively high levels of phenylalanine in body fluids. PKU is a paradigm for a genetic disease that can
Externí odkaz:
https://doaj.org/article/d9f96c90fcf040fb8bfc5b302d89122c
Autor:
F. M. Elli, L. deSanctis, M.A. Maffini, P. Bordogna, D. Tessaris, A. Pirelli, M. Arosio, A. Linglart, G. Mantovani
Publikováno v:
Clinical Epigenetics, Vol 11, Iss 1, Pp 1-8 (2019)
Abstract Background The term pseudohypoparathyroidism (PHP) describes disorders derived from resistance to the parathyroid hormone. Albright hereditary osteodystrophy (AHO) is a disorder with several physical features that can occur alone or in assoc
Externí odkaz:
https://doaj.org/article/b756e09f345d4a18921669574b2a835f
Autor:
Eva Y. G. De Vilder, Ludovic Martin, Georges Lefthériotis, Paul Coucke, Filip Van Nieuwerburgh, Olivier M. Vanakker
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Introduction: Pseudoxanthoma elasticum (PXE), an ectopic mineralization disorder caused by pathogenic ABCC6 variants, is characterized by skin, ocular and cardiovascular (CV) symptoms. Due to striking phenotypic variability without genotype-phenotype
Externí odkaz:
https://doaj.org/article/0a7d47e021de4c4bbb2ae7637c12ffa9