Results 31 to 40 of about 154,476 (163)

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

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., Lipina, T. V., Millar, J. K., Mackie, S., Christie, S., Ogawa, F., Lerch, J. P., Trimble, K., Uchiyama, M., Sakuraba, Y., Kaneda, H., Shiroishi, T., Houslay, M. D., Henkelman, R. M., Sled, J. G., Gondo, Y., Porteous, D. J., Roder, J. C.   +17 more
openaire   +2 more sources

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, Manuchehr Barak, Saied Hosseiniasl, Ehsan Shahbazfar   +3 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

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

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

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

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

A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency

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, Shen Yang, Ruolan Guo, Libing Fu, Li Zhang, Weihong Guo, Jingbin Du, Jianxin He, Qinghua Ren, Chanjuan Hao, Jingang Gui, Jinshi Huang   +11 more
doaj   +1 more source

Case report: ALK D1225N missense mutation in lung adenocarcinoma responds to tyrosine kinase inhibitors

Frontiers in Pharmacology, 2023
ALK gene missense mutations are conventionally considered non-driver mutations without pathological significance, and therefore, there is a lack of effective target drugs against them.
Jianxin Chen, Junhui Wang
doaj   +1 more source