Results 81 to 90 of about 79,198 (289)
On the origins of Mendelian disease genes in man: the impact of gene duplication [PDF]
, 2011 Over 3,000 human diseases are known to be linked to heritable genetic variation, mapping to over 1,700 unique genes. Dating of the evolutionary age of these disease-associated genes has suggested that they have a tendency to be ancient, specifically ...
Dickerson, Jonathan E. +1 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates +6 more
wiley +1 more source
X chromosome transmission ratio distortion in
BMC Genetics, 2007 Background Cystic fibrosis (CF) mice, created with a genetically engineered mutation in the Cystic fibrosis transmembrane conductance regulator (Cftr) gene, may develop intestinal plugs which limit their survival past weaning.
Lafleur Melanie +2 more
doaj +1 more source
An alternative to Kitcher's theory of conceptual progress and his account of the change of the gene concept [PDF]
, 2004 The present paper discusses Kitcher’s framework for studying conceptual change and progress. Kitcher’s core notion of reference potential is hard to apply to concrete cases.
Brigandt, Ingo
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani +17 more
wiley +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Ernst Rüdin, an important and controversial figure in the history of psychiatric genetics, published only one major empirical study on siblings of dementia praecox (DP) probands in 1916. He conducted a parallel study of siblings of probands with manic‐depressive insanity (MDI), but the resulting monograph, written in the early 1920s, was left ...
Kenneth S. Kendler, Astrid Klee
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes +3 more
wiley +1 more source
Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady +10 more
wiley +1 more source
Two isoforms of the RAC-specific guanine nucleotide exchange factor TIAM2 act oppositely on transmission ratio distortion by the mouse t-haplotype. [PDF]
PLoS Genetics, 2019 Transmission ratio distortion (TRD) by the mouse t-haplotype, a variant region on chromosome 17, is a well-studied model of non-Mendelian inheritance.
Yves Charron +5 more
doaj +1 more source
Presume It Not: True Causes in the Search for the Basis of Heredity [PDF]
, 2017 Kyle Stanford has recently given substance to the problem of unconceived alternatives, which challenges the reliability of inference to the best explanation (IBE) in remote domains of nature.
Novick, Aaron, Scholl, Raphael
core +1 more source