Novel Intragenic Duplication of GATAD2B in a Patient With GAND
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The nucleosome remodeling and deacetylation (NuRD) complex is a major chromatin regulator and plays a critical role in regulating gene transcription, genome integrity, and cell cycle progression. Heterozygous variants in GATAD2B, a core NuRD component, have been reported to cause GATAD2B‐Associated Neurodevelopmental Disorder (GAND), an ...
Mari Mori +9 more
wiley +1 more source
Nonsense mutations in the Chlamydomonas chloroplast gene that codes for the large subunit of ribulosebisphosphate carboxylase/oxygenase [PDF]
, 1985 Robert J. Spreitzer +3 more
openalex +1 more source
Hereditary Spherocytosis due to an SPTA1 Nonsense Mutation Coinherited With α spectrinLELY in Trans
American Journal of Hematology, EarlyView.
María‐Angustias Molina‐Arrebola +1 more
wiley +1 more source
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
A novel PAX6 nonsense mutation identified in an Iranian family with various eye anomalies
Journal of Current Ophthalmology, 2018 Purpose: The aim of this study was to detect the genetic defects in a large pedigree of affected individuals with various phenotypes of ocular anomalies including partial aniridia, congenital cataract, and nystagmus.
Ali Torkashvand +2 more
doaj
Nonsense mutations of the ornithine decarboxylase structural gene of Neurospora crassa. [PDF]
, 1987 Rowland H. Davis +2 more
openalex +1 more source
Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies
Annals of Neurology, EarlyView.Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel +10 more
wiley +1 more source
Area, EarlyView., 2022 This article uses examples from practice‐led‐research to explore the tensions between rewilding and the gendered embodied knowledge of upland farmers in an area of Wales, UK called the Cambrian Mountains. This paper argues that within the context of the polarising ideas of rewilding, sensitivity and the need to listen to the embodied, situated ...
Ffion Jones
wiley +1 more source
Nonsense mutation in factor VIII gene of a severe haemophiliac patient with anti-factor VIII antibody [PDF]
, 1988 Sadaaki Mikai +6 more
openalex +1 more source
Mutational Analysis of the SOX9 Gene in Campomelic Dysplasia and Autosomal Sex Reversal: Lack of Genotype/Phenotype Correlations [PDF]
, 2017 It has previously been shown that, in the heterozygous state, mutations in the SOX9 gene cause campomelic dysplasia (CD) and the often associated autosomal XY sex reversal.
Dagna Bricarelli, Franca +17 more
core