Results 151 to 160 of about 193,929 (313)
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp +7 more
wiley +1 more source
Human Mutation, Volume 43, Issue 12, Page 1824-1828, December 2022., 2022 Abstract Pathogenic variants in JAG1 are known to cause Alagille syndrome (ALGS), a disorder that primarily affects the liver, lung, kidney, and skeleton. Whereas cardiac symptoms are also frequently observed in ALGS, thoracic aortic aneurysms have only been reported sporadically in postmortem autopsies.
Jotte Rodrigues Bento +16 more
wiley +1 more source
Annals of Neurology, EarlyView.Objective Genetic dystonia is a complex movement disorder with diverse clinical manifestations resulting from pathogenic mutations in associated genes. A recent paradigm shift emphasizes the functional convergence among dystonia genes, hinting at a shared pathomechanism. However, the neural dynamics supporting this convergence remain largely unexplored.
Ahmet Kaymak +18 more
wiley +1 more source
Human Mutation, Volume 43, Issue 12, Page 1898-1908, December 2022., 2022 Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy Abstract MORC2 gene encodes a ubiquitously expressed nuclear protein involved in chromatin remodeling, DNA repair, and transcriptional regulation. Heterozygous mutations in MORC2 gene have been associated with a spectrum of
Arnaud Jacquier +9 more
wiley +1 more source
Annals of Neurology, EarlyView.Objective Gain‐of‐function (GoF) variants in KCNT1 encoding for potassium channels are associated with different epilepsy phenotypes, including epilepsy of infancy with migrating focal seizures (EIMFS), other early infantile developmental and epileptic encephalopathies, and focal epilepsy.
Marina Trivisano +13 more
wiley +1 more source
Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest
Human Mutation, Volume 43, Issue 12, Page 1909-1920, December 2022., 2022 Abstract The subcortical maternal complex (SCMC), composed of several maternal‐effect genes, is vital for the development of oocytes and early embryos. Variants of SCMC‐encoding genes (NLRP2, NLRP5, TLE6, PADI6, and KHDC3L, but not OOEP and ZBED3) are associated with human oocyte maturation dysfunction, fertilization failure, and early embryonic arrest.
Xiaomei Tong +6 more
wiley +1 more source
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
, 2009 Murim Choi +13 more
openalex +1 more source
Arthritis &Rheumatology, EarlyView.Objective Adult‐onset Still disease (AOSD) is a systemic autoinflammatory disorder (AID) of unknown etiology. Genetic studies have been limited. Here, we conducted detailed genetic and inflammatory biomarker analysis of a large cohort with AOSD to investigate the underlying pathology and identify novel targets for potential treatment.
Joanne Topping +20 more
wiley +1 more source
AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders
Human Mutation, Volume 43, Issue 12, Page 1795-1807, December 2022., 2022 Abstract Routine exome sequencing (ES) in individuals with neurodevelopmental disorders (NDD) remains inconclusive in >50% of the cases. Research analysis of unsolved cases can identify novel candidate genes but is time‐consuming, subjective, and hard to compare between labs.
Johann Kaspar Lieberwirth +5 more
wiley +1 more source