Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood [PDF]
, 2005 BACKGROUND: Pulmonary arterial hypertension (PAH) is a potentially fatal vasculopathy that can develop at any age. Adult-onset disease has previously been associated with mutations in BMPR2 and ALK-1.
Haworth, SG +22 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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Az öröklött és szerzett kataláz hiány klinikai és klinikai biokémiai vonatkozásai = Clinical and biochemical consequences of inherited and acquired forms of catalase deficiency [PDF]
, 2007 A hidrogénperoxid az élőszervezetekre gyakorolt oxidatív, toxikus hatásáról volt ismert, míg szerepe az újabb irodalmi adatok alapján átértékelődött.
Góth, László +3 more
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TBK1 mutation spectrum in an extended European patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis [PDF]
, 2017 We investigated the mutation spectrum of the TANK-Binding Kinase 1 (TBK1) gene and its associated phenotypic spectrum by exonic resequencing of TBK1 in a cohort of 2,538 patients with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), or
Gelpi, Ellen +58 more
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CINCA Syndrome With New NLRP3 Mutation and Unreported Complication of Thyroid Carcinoma
Clinical Medicine Insights: Case Reports, 2019 Background: Chronic infantile neurologic cutaneous and articular syndrome (CINCA) is the most severe phenotype of cryopyrin-associated periodic syndromes (CAPS) and is caused by a missense mutation in NLRP3 gene.
Farhad Salehzadeh +3 more
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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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Behavioral Phenotypes of Disc1 Missense Mutations in Mice [PDF]
Neuron, 2007 To support the role of DISC1 in human psychiatric disorders, we identified and analyzed two independently derived ENU-induced mutations in Exon 2 of mouse Disc1. Mice with mutation Q31L showed depressive-like behavior with deficits in the forced swim test and other measures that were reversed by the antidepressant bupropion, but not by rolipram, a ...
Clapcote, S. J. +17 more
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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
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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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Hereditary colorectal cancer : assessment of genotype-phenotype correlations and analysis of rare susceptibility genes in familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC) [PDF]
, 2008 Each year 3500 people in Switzerland are diagnosed with colorectal cancer. Approximately 20 percent of all affected patients have two or more first or second-degree relatives with colorectal cancer (at-risk family members). About five percent of these
Necker, Judith
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