Results 41 to 50 of about 176,213 (311)

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, Qin Wu, Ting Xie, Yong Luo, Hui Guo, Zhiping Tan, Jinlan Chen, Yifeng Yang, Li Xie   +8 more
doaj   +1 more source

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, Everett, Lorraine A., Coucke, Paul, Scott, Daryl A., Kraft, Michelle L., Ris-Stalpers, Carrie, Bolder, Cuny, Otten, Barto, de Vijlder, Jan J.M., Dietrich, Nicole L., Ramesh, Arabandi, Srikumari Srisailpathy, C.R., Parving, Agnete, Cremers, Cor W.R.J., Willems, Patrick J., Smith, Richard J.H., Green, Eric D., Van Camp, Guy   +17 more
openaire   +5 more sources

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, Gianluca Severi, Laura Baglietto, James G Dowty, Mark A Jenkins, Melissa C Southey, John L Hopper, Graham G Giles   +7 more
doaj   +1 more source

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., Footz, Tim K., Murphy, Tara C., Courtens, Winnie, Walter, Michael A.   +4 more
openaire   +3 more sources

Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability

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, Ying Zhang, Zhenfeng Song, Hong Pan, Chengqing Yang, Fei Li, Jiao Xue, Zhenghai Qu   +7 more
doaj   +1 more source

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
core   +1 more source

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
openaire   +2 more sources

Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship

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, Roberta Russo, Maria Rosaria Esposito, Roberta Asci, Carmelo Piscopo, Silverio Perrotta, Madeleine Fénéant-Thibault, Loïc Garçon, Jean Delaunay   +8 more
doaj   +1 more source

A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony

, 2012
A 7-month-old New Forest foal presented for episodes of recumbency and stiffness with myotonic discharges on electromyography. The observed phenotype resembled congenital myotonia caused by CLCN1 mutations in goats and humans.
Mascarello, F, Wijnberg, I D, Drögemüller, Cord, Pascoli, F, Grunberg, W, van der Kolk J. H.,, Owczarek-Lipska, Marta, Sacchetto, R   +7 more
core   +1 more source

Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity [PDF]

, 2003
We initially performed a mutation screen of the coding region of the MC4R in 808 extremely obese children and adolescents and 327 underweight or normal-weight controls allowing for a case-control study.
Sarah Hohmann, Hanspeter Goldschmidt, Hohmann, Sarah, Thomas Gudermann, Remschmidt, Helmut, Geller, Frank, Wolfgang Siegfried, Hebebrand, Johannes, Schäfer, Helmut, Anke Hinney, Siegfried, Wolfgang, Brokamp, Britta, Hess, Claudia, Hinney, Anke, Wermter, Anne-Kathrin, Goldschmidt, Hanspeter, Frank Geller, Constanze Vogel, Johannes Hebebrand, Britta Brokamp, Vogel, Constanze, Helmut Remschmidt, Gudermann, Thomas, Claudia Hess, Anne-kathrin Wermter   +24 more
core   +1 more source