Results 31 to 40 of about 4,883 (116)
Italian Journal of Pediatrics, 2020 Background MED13L-related intellectual disability is a new syndrome that is characterized by intellectual disability (ID), motor developmental delay, speech impairment, hypotonia and facial dysmorphism.
Zhi Yi +7 more
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A novel mutation in the tropomyosin 1 gene in a Chinese patient with hypertrophic cardiomyopathy
All Life, 2022 Hypertrophic cardiomyopathy (HCM) is an inherited heart disease characterized by left ventricular hypertrophy. Although sarcomeric gene mutations can explain many HCM cases, the genetic basis of approximately half of HCM cases remains elusive.
Ke Gong +8 more
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Two Frequent Missense Mutations in Pendred Syndrome [PDF]
Human Molecular Genetics, 1998 Pendred syndrome is an autosomal recessive disorder characterized by early childhood deafness and goiter. A century after its recognition as a syndrome by Vaughan Pendred, the disease gene ( PDS ) was mapped to chromosome 7q22-q31.1 and, recently, found to encode a putative sulfate transporter. We performed mutation analysis of the PDS gene in patients
van Hauwe, Peter +17 more
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Analyses of a Novel L130F Missense Mutation in FOXC1 [PDF]
Archives of Ophthalmology, 2007 To understand how the novel L130F mutation, found in 2 patients with Axenfeld-Rieger syndrome, disrupts function of the forkhead box C1 protein (FOXC1).Sequencing DNA from patients with Axenfeld-Rieger syndrome identified a novel missense mutation that results in an L130F substitution in the FOXC1 gene.
Ito, Yoko A. +4 more
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Impact of missense mutations on biosynthesis of myeloperoxidase
Redox Report, 2000 We have examined the biosynthesis of normal and mutant forms of myeloperoxidase (MPO) in order to gain insights into the critical features of normal biogenesis of MPO. The expression of wild-type and mutant forms of MPO in a stably transfected cell line devoid of endogenous MPO as well as in established human promyelocytic cell lines has allowed ...
W M, Nauseef, S, McCormick, M, Goedken
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Haematologica, 2010 Background The most frequent form of congenital dyserythropoietic anemia is the type II form. Recently it was shown that the vast majority of patients with congenital dyserythropoietic anemia type II carry mutations in the SEC23B gene.
Achille Iolascon +8 more
doaj +1 more source
Population-based estimate of prostate cancer risk for carriers of the HOXB13 missense mutation G84E. [PDF]
PLoS ONE, 2013 The HOXB13 missense mutation G84E (rs138213197) is associated with increased risk of prostate cancer, but the current estimate of increased risk has a wide confidence interval (width of 95% confidence interval (CI) >200-fold) so the point estimate of 20 ...
Robert J MacInnis +7 more
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Frontiers in Immunology, 2021 Rare autosomal-recessive variants in tetratricopeptide repeat domain 7A (TTC7A) gene have been shown to cause intestinal and immune disorders of variable severity.
Wenjun Mou +11 more
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AHDC1 missense mutations in Xia-Gibbs syndrome
Human Genetics and Genomics Advances, 2021 Xia-Gibbs syndrome (XGS; MIM: 615829) is a phenotypically heterogeneous neurodevelopmental disorder (NDD) caused by newly arising mutations in the AT-Hook DNA-Binding Motif-Containing 1 (AHDC1) gene that are predicted to lead to truncated AHDC1 protein synthesis. More than 270 individuals have been diagnosed with XGS worldwide.
Michael M. Khayat +22 more
openaire +4 more sources
BiomedicinesArrhythmic risk stratification in patients with Lamin A/C gene (LMNA)-related cardiomyopathy influences clinical decisions. An implantable cardioverter defibrillator (ICD) should be considered in patients with an estimated 5-year risk of malignant ...
Cinzia Forleo +19 more
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