Results 11 to 20 of about 241,061 (333)

Elastin genetic point mutation and the risk of pelvic organ prolapse

Clinical and Experimental Obstetrics & Gynecology, 2020
Aim: A missense mutation in the elastin gene (g28197A > G) is associated with an increased risk for inguinal hernias. Due to the shared epidemiological and pathophysiological features between pelvic organ prolapse (POP) and inguinal hernias, the authors ...
N. Haya, I. Feferkorn, F. Fares, N. Azzam, R. Auslender, Y. Abramov   +5 more
doaj   +1 more source

Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy

Biomedicines, 2022
Recessive mutations in the POLR3A gene cause POLR3-HLD (the second-most-common form of childhood-onset hypomyelinating leukodystrophy), a neurodegenerative disorder featuring deficient cerebral myelin formation. To date, more than 140 POLR3A (NM_007055.3)
Antonino Musumeci, Francesco Calì, Carmela Scuderi, Mirella Vinci, Girolamo Aurelio Vitello, Sebastiano Antonino Musumeci, Valeria Chiavetta, Concetta Federico, Greta Amore, Salvatore Saccone, Gabriella Di Rosa, Antonio Gennaro Nicotera   +11 more
doaj   +1 more source

Functional Consequences of PRODH Missense Mutations [PDF]

The American Journal of Human Genetics, 2005
PRODH maps to 22q11 in the region deleted in the velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS) and encodes proline oxidase (POX), a mitochondrial inner-membrane enzyme that catalyzes the first step in the proline degradation pathway. At least 16 PRODH missense mutations have been identified in studies of type I hyperprolinemia (HPI) and ...
David Valle, Wei Wen Lin, Ann E. Pulver, Chien-An Andy Hu, Gary Steel, Shlomo Almashanu, Hans-Ulrich Bender, Alecia Willis   +7 more
openaire   +3 more sources

Identification of a Tumor Specific, Active-Site Mutation in Casein Kinase 1α by Chemical Proteomics. [PDF]

PLoS ONE, 2016
We describe the identification of a novel, tumor-specific missense mutation in the active site of casein kinase 1α (CSNK1A1) using activity-based proteomics.
Eric S Okerberg, Anna Hainley, Heidi Brown, Arwin Aban, Senait Alemayehu, Ann Shih, Jane Wu, Matthew P Patricelli, John W Kozarich, Tyzoon Nomanbhoy, Jonathan S Rosenblum   +10 more
doaj   +1 more source

Missense mutations in DYT-TOR1A dystonia [PDF]

Neurology Genetics, 2019
DYT-TOR1A dystonia is caused by dominant mutations in the TOR1A gene, most frequently a heterozygous in-frame deletion in exon 5 (c.904_906delGAG; p.302/303delE).1 The most frequent phenotype has childhood onset in a limb, spreading to generalized dystonia within a few years.
Zafar Iqbal, Jeanette Koht, Lasse Pihlstrøm, Sandra P. Henriksen, Chiara Cappelletti, Michael Bjørn Russel, Osmar Norberto de Souza, Inger Marie Skogseid, Mathias Toft   +8 more
openaire   +4 more sources

Functional analysis reveals driver cooperativity and novel mechanisms in endometrial carcinogenesis

EMBO Molecular Medicine, 2023
High‐risk endometrial cancer has poor prognosis and is increasing in incidence. However, understanding of the molecular mechanisms which drive this disease is limited.
Matthew Brown, Alicia Leon, Katarzyna Kedzierska, Charlotte Moore, Hayley L Belnoue‐Davis, Susanne Flach, John P Lydon, Francesco J DeMayo, Annabelle Lewis, Tjalling Bosse, Ian Tomlinson, David N Church   +11 more
doaj   +1 more source

Missense mutations of human homeoboxes: A review [PDF]

Human Mutation, 2001
The homeodomain (encoded by the homeobox) is the DNA-binding domain of a large variety of transcriptional regulators involved in controlling cell fate decisions and development. Mutations of homeobox-containing genes cause several diseases in humans. A variety of missense mutations giving rise to human diseases have been described.
D'Elia AV, TELL, Gianluca, Paron I, Pellizzari L, LONIGRO, Incoronata, DAMANTE, Giuseppe   +5 more
openaire   +4 more sources

Classification of Missense Mutations of Disease Genes [PDF]

Journal of the American Statistical Association, 2005
Clinical management of individuals found to harbor a mutation at a known disease-susceptibility gene depends on accurate assessment of mutation-specific disease risk. For missense mutations (MMs)-mutations that lead to a single amino acid change in the protein coded by the gene-this poses a particularly challenging problem.
Xi Zhou, Edwin S. Iversen, Giovanni Parmigiani   +2 more
openaire   +4 more sources

Mutator phenotypes of common polymorphisms and missense mutations in MSH2 [PDF]

Current Biology, 1999
Hereditary non-polyposis colorectal cancer (HNPCC) is associated with germline mutations in the DNA mismatch repair gene hMSH2 [1], the human homologue of the Escherichia coli MutS gene. These are mostly nonsense, frameshift or deletion mutations that result in loss of intact protein and complete inactivation of DNA mismatch repair.
Alan B. Clark, Karin Drotschmann, Thomas A. Kunkel   +2 more
openaire   +3 more sources

Mutation analysis of the KRT9 gene in a family with epidermolytic palmoplantar keratoderma

Pifu-xingbing zhenliaoxue zazhi, 2023
Objective To investigate the pedigree and gene mutation of a family of patient with epidermolytic palmoplantar keratoderma (EPPK). Methods Clinical data were collected, and DNA samples were extracted from affected individuals and her parents. Whole-exome
Yongfeng YAO, Zhijie LUO, Zeqiao ZHANG, Fang YANG   +3 more
doaj   +1 more source