Identification of a novel mitochondrial NADH dehydrogenase I (MTND1) gene mutation in two patients with hypertrophic cardiomyopathy

Identification of a novel mitochondrial NADH dehydrogenase I (MTND1) gene mutation in two patients with hypertrophic cardiomyopathy

Podrobná bibliografie
Hlavní autoři:	Khogali, S, Blair, E, Beattie, J, Watkins, H, Poulton, J
Médium:	Journal article
Vydáno:	2001

Podobné jednotky

Identification of a novel mitochondrial DNA mutation in the ND1 gene in 2 patients with hypertrophic cardiomyopathy with restrictive physiology
Autor: Khogali, S, a další
Vydáno: (2001)

A common mitochondrial DNA variant associated with susceptibility to dilated cardiomyopathy in two different populations.
Autor: Khogali, S, a další
Vydáno: (2001)

A common mitochondrial DNA variant is associated with idiopathic dilated cardiomyopathy in two different populations
Autor: Khogali, S, a další
Vydáno: (2000)

A common mitochondrial DNA variant is associated with susceptibility to idiopathic dilated cardiomyopathy in two different populations.
Autor: Khogali, S, a další
Vydáno: (2000)

Association of a common mitochondrial DNA D-loop variant with idiopathic dilated cardiomyopathy in two different populations
Autor: Khogali, S, a další
Vydáno: (2000)

Mitochondrial targeting of human NADH dehydrogenase (ubiquinone) flavoprotein 2 (NDUFV2) and its association with early-onset hypertrophic cardiomyopathy and encephalopathy
Autor: Kao Mou-Chieh, a další
Vydáno: (2011-05-01)

Early onset malignant hypertrophic cardiomyopathy caused by mutations in MYBPC3
Autor: Carballo, S, a další
Vydáno: (2003)

Novel mutations in cardiac MYBPC3 and early onset malignant hypertrophic cardiomyopathy
Autor: Carballo, S, a další
Vydáno: (2005)

Hypertrophic cardiomyopathy in Noonan Syndrome closely mimics familial hypertrophic cardiomyopathy due to sarcomeric mutations.
Autor: Hudsmith, L, a další
Vydáno: (2006)

Novel mutations in cardiac MYBPC3 causing early onset malignant hypertrophic cardiomyopathy
Autor: Carballo, S, a další
Vydáno: (2005)

Double mutations in CIS can confound genotype-phenotype correlations in hypertrophic cardiomyopathy
Autor: Blair, E, a další
Vydáno: (2000)

Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene
Autor: Alice Zanolini, a další
Vydáno: (2017-03-01)

Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy.
Autor: Blair, E, a další
Vydáno: (2001)

Novel mutations in cardiac MYPBC3 cause early onset malignant hypertrophic cardiomyopathy (HCM)
Autor: Carballo, S, a další
Vydáno: (2005)

Investigation of frequent somatic mutations of MTND5 gene in gastric cancer cell lines and tissues
Autor: Lian Li, a další
Vydáno: (2018-07-01)

Linked genetic modifiers in hypertrophic cardiomyopathy
Autor: Ektisham, J, a další
Vydáno: (2004)

Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report
Autor: Tsukasa Naganuma, a další
Vydáno: (2023-06-01)

A novel mutation in phospholamban causes a mixed hypertrophic and dilated cardiomyopathy phenotype with autosomal dominant inheritance
Autor: Carballo, S, a další
Vydáno: (2004)

A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene
Autor: Tao-Ran Li, a další
Vydáno: (2019-04-01)

Synthetic lethality of Mycobacterium tuberculosis NADH dehydrogenases is due to impaired NADH oxidation
Autor: Yuanyuan Xu, a další
Vydáno: (2023-12-01)

Ascertainment strategies and genotype:phenotype correlations in hypertrophic cardiomyopathy.
Autor: Blair, E, a další
Vydáno: (2003)

Functional analysis of hypertrophic cardiomyopathy missense mutations in the light meromyosin region of beta myosin heavy chain
Autor: Redwood, C, a další
Vydáno: (2003)

Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin
Autor: Toepfer, C, a další
Vydáno: (2019)

Is DNA testing for hypertrophic cardiomyopathy cost-effective?
Autor: Wordsworth, S, a další
Vydáno: (2006)

Addendum: A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene
Autor: Tao-Ran Li, a další
Vydáno: (2019-09-01)

Sudden death in hypertrophic cardiomyopathy.
Autor: Watkins, H
Vydáno: (2000)

NADH Dehydrogenases in Pseudomonas aeruginosa Growth and Virulence
Autor: Angela Torres, a další
Vydáno: (2019-02-01)

Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion.
Autor: Ashrafian, H, a další
Vydáno: (2003)

Investigation of troponin I mutations causing familial hypertrophic cardiomyopathy
Autor: Abdulrazzak, H, a další
Vydáno: (2001)

Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy.
Autor: Blair, E, a další
Vydáno: (2002)

Myocardial dysfunction in hypertrophic cardiomyopathy.
Autor: Ashrafian, H, a další
Vydáno: (2001)

Hypertrophic cardiomyopathy: Mutations to mechanisms to therapies
Autor: Masataka Kawana, a další
Vydáno: (2022-09-01)

Transgenic NADH dehydrogenase restores oxygen regulation of breathing in mitochondrial complex I-deficient mice
Autor: Blanca Jiménez-Gómez, a další
Vydáno: (2023-03-01)

Identification of novel interactions between domains of Myosin binding protein-C that are modulated by hypertrophic cardiomyopathy missense mutations.
Autor: Moolman-Smook, J, a další
Vydáno: (2002)

DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model.
Autor: Wordsworth, S, a další
Vydáno: (2010)

DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model
Autor: Wordsworth, S, a další
Vydáno: (2010)

Data-driven modelling of mutational hotspots and in silico predictors in hypertrophic cardiomyopathy
Autor: Waring, A, a další
Vydáno: (2020)

Identification of a subunit of NADH-dehydrogenase as a p49/STRAP-binding protein
Autor: Zhong Ying, a další
Vydáno: (2008-01-01)

Metabolic perturbations in the pathogenesis of hypertrophic cardiomyopathy
Autor: Ashrafian, H, a další
Vydáno: (2005)

Physiological relevance, localization and substrate specificity of the alternative (type II) mitochondrial NADH dehydrogenases of Ogataea parapolymorpha
Autor: Hannes Juergens, a další
Vydáno: (2024-12-01)