Results 31 to 40 of about 537,790 (185)

In Vitro Splicing Assay Proves the Pathogenicity of Intronic Variants in MRAP [PDF]

Journal of the Endocrine Society, 2021
Abstract Introduction: Familial glucocorticoid deficiency (FGD) is characterised by isolated glucocorticoid deficiency in a patient who retains normal mineralocorticoid production. FGD causing mutations in the MC2R accessory protein, MRAP, are often splice-site or nonsense mutations resulting in a truncated protein.
Smith, C, Maharaj, A, Qamar, Y, Read, J, Williams, J, Marimuthu, V, Chan, L, Metherell, L   +7 more
openaire   +3 more sources

Intronic variant effect (+182 b).

, 2023
(A) Mutants with downstream deletion to the intronic swap variant; tu1445, tu1446, tu1444 display weaker mouth-form change than the mutant with the targeted swap; tu1444. Both tu1447 and tu1444 harbor the same 4-bp deletion. For detailed information, see
Hanh Witte (273924), Gabi Eberhard (16846465), Mohannad Dardiry (16846462), Ralf J. Sommer (132327), Christian Rödelsperger (254006), James W. Lightfoot (7412795)   +5 more
core   +1 more source

USF1 and dyslipidemias: converging evidence for a functional intronic variant [PDF]

Human Molecular Genetics, 2005
Upstream transcription factor 1 (USF1), the first gene associated with familial combined hyperlipidemia (FCHL), regulates numerous genes of glucose and lipid metabolism. Phenotypic overlap between FCHL, type 2 diabetes and the metabolic syndrome makes this gene an intriguing candidate in the disease process of these traits as well.
Jussi, Naukkarinen, Massimiliano, Gentile, Aino, Soro-Paavonen, Janna, Saarela, Heikki A, Koistinen, Päivi, Pajukanta, Marja-Riitta, Taskinen, Leena, Peltonen   +7 more
openaire   +2 more sources

Reticular dysgenesis caused by an intronic pathogenic variant in AK2 [PDF]

Molecular Case Studies, 2020
Reticular dysgenesis is a form of severe combined immunodeficiency (SCID) caused by biallelic pathogenic variants in AK2. Here we present the case of a boy diagnosed with SCID following a positive newborn screen (NBS). Genetic testing revealed a homozygous variant: AK2 c.330 + 5G > A.
Shoji Ichikawa, Susan Prockop, Charlotte Cunningham-Rundles, Travis Sifers, Blair R. Conner, Sitao Wu, Rachid Karam, Michael F. Walsh, Elise Fiala   +8 more
openaire   +2 more sources

Targeted deep resequencing identifies coding variants in the PEAR1 gene that play a role in platelet aggregation. [PDF]

PLoS ONE, 2013
Platelet aggregation is heritable, and genome-wide association studies have detected strong associations with a common intronic variant of the platelet endothelial aggregation receptor1 (PEAR1) gene both in African American and European American ...
Yoonhee Kim, Bhoom Suktitipat, Lisa R Yanek, Nauder Faraday, Alexander F Wilson, Diane M Becker, Lewis C Becker, Rasika A Mathias   +7 more
doaj   +1 more source

Association of Intronic Variants of the BTBD9 Gene With Tourette Syndrome [PDF]

Archives of Neurology, 2009
To test the association between Tourette syndrome (TS) and genetic variants in genomic loci MEIS1, MAP2K5/LBXCOR1, and BTBD9, for which genome-wide association studies in restless legs syndrome and periodic limb movements during sleep revealed common risk variants.Case-control association study.Movement disorder clinic in Montreal. Subjects We typed 14
Rivière, Jean-Baptiste, Xiong, Lan, Levchenko, Anastasia, St-Onge, Judith, Gaspar, Claudia, Dion, Yves, Lespe´rance, Paul, Tellier, Geneviève, Richer, Francois, Chouinard, Sylvain, Rouleau, Guy A.   +10 more
openaire   +2 more sources

The histone variant H2A.Z promotes splicing of weak introns [PDF]

Genes & Development, 2017
Multiple lines of evidence implicate chromatin in the regulation of premessenger RNA (pre-mRNA) splicing. However, the influence of chromatin factors on cotranscriptional splice site usage remains unclear. Here we investigated the function of the highly conserved histone variant H2A.Z in pre-mRNA splicing using the intron-rich model yeast ...
Nissen, Kelly E, Homer, Christina M, Ryan, Colm J, Shales, Michael, Krogan, Nevan J, Patrick, Kristin L, Guthrie, Christine   +6 more
openaire   +4 more sources

Intronic variants in inborn errors of metabolism: Beyond the exome

Frontiers in Genetics, 2022
Non-coding regions are areas of the genome that do not directly encode protein and were initially thought to be of little biological relevance. However, subsequent identification of pathogenic variants in these regions indicates there are exceptions to this assertion.
Ashley Hertzog, Ashley Hertzog, Arthavan Selvanathan, Elizabeth Farnsworth, Michel Tchan, Louisa Adams, Katherine Lewis, Adviye Ayper Tolun, Adviye Ayper Tolun, Bruce Bennetts, Bruce Bennetts, Gladys Ho, Gladys Ho, Kaustuv Bhattacharya, Kaustuv Bhattacharya   +14 more
openaire   +3 more sources

Functional Analysis of an Intronic FBN1 Pathogenic Gene Variant in a Family With Marfan Syndrome

Frontiers in Genetics, 2022
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder that canonically affects the ocular, skeletal, and cardiovascular system, in which aortic tear and rupture is the leading cause of death for MFS patients.
Kui Hu, Yun Wan, Fu-Tsuen Lee, Fu-Tsuen Lee, Jinmiao Chen, Hao Wang, Haonan Qu, Tao Chen, Wang Lu, Zhenwei Jiang, Lufang Gao, Xiaojuan Ji, Liqun Sun, Daokang Xiang   +13 more
doaj   +1 more source

glarue/intronIC: intronIC v1.2.0

, 2020
intronIC v1.2.0 Fix GridSearchCV regression with newer versions of scikit-learn (>v0.22) (see issue #1) Due to scikit-learn's inversion of a default flag in GridSearchCV, intronIC must now require scikit-learn to be at least v0.22 This fix breaks ...
Graham Larue
core   +1 more source