Results 21 to 30 of about 50,370 (253)

IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma

npj Genomic Medicine, 2023
Genomic sequences residing within introns of few genes have been shown to act as enhancers affecting expression of neighboring genes. We studied an autosomal recessive phenotypic continuum of microphthalmia, anophthalmia and ocular coloboma, with no ...
Ohad Wormser, Yonatan Perez, Vadim Dolgin, Bahman Kamali, Jared A. Tangeman, Libe Gradstein, Yuval Yogev, Noam Hadar, Ofek Freund, Max Drabkin, Daniel Halperin, Inbar Irron, Erika Grajales-Esquivel, Katia Del Rio-Tsonis, Ramon Y. Birnbaum, Gidon Akler, Ohad S. Birk   +16 more
doaj   +1 more source

An intronic variant in the GCKR gene is associated with multiple lipids [PDF]

Scientific Reports, 2019
AbstractPrevious studies have shown that an intronic variant rs780094 of the GCKR gene (glucokinase regulatory protein) is significantly associated with several metabolites, but the associations of this genetic variant with different lipids is largely unknown.
Lilian Fernandes Silva, Jagadish Vangipurapu, Teemu Kuulasmaa, Markku Laakso   +3 more
openaire   +2 more sources

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

A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy

Annals of Clinical and Translational Neurology, 2020
Objective To identify the genetic cause in an adult ovarioleukodystrophy patient resistant to diagnosis. Methods We applied whole‐exome sequencing (WES) to a vanishing white matter disease patient associated with premature ovarian failure at 26 years of ...
Agustí Rodríguez‐Palmero, Agatha Schlüter, Edgard Verdura, Montserrat Ruiz, Juan José Martínez, Isabelle Gourlaouen, Chandran Ka, Ricardo Lobato, Carlos Casasnovas, Gérald Le Gac, Stéphane Fourcade, Aurora Pujol   +11 more
doaj   +1 more source

Toward a clinical diagnostic pipeline for SPINK1 intronic variants [PDF]

Human Genomics, 2019
The clinical significance of SPINK1 intronic variants in chronic pancreatitis has been previously assessed by various approaches including a cell culture-based full-length gene assay. A close correlation between the results of this assay and in silico splicing prediction was apparent.
Tang, Xin-Ying, Lin, Jin-Huan, Zou, Wen-Bin, Masson, Emmanuelle, Boulling, Arnaud, Deng, Shun-Jiang, Cooper, David, Liao, Zhuan, Férec, Claude, Li, Zhao-Shen, Chen, Jian-Min   +10 more
openaire   +6 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

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

FOXP3 deep intronic variant underlying IPEXPathogenic FOXP3 deep intronic variant [PDF]

Journal of Human Immunity
We report a deep intronic FOXP3 pathogenic variant that was investigated by RNA sequencing in heterozygous female carriers.
Pierre Gaufryau, Marie-Claude Stolzenberg, Nathalie Lambert, Philipp Peters, Iben El Missaoui, Najiba Alioua, Sylvain Hanein, Mohamed Hamici, Patrick Nitschké, Peng Zhang, Jacinta Bustamante, Bénédicte Neven, Capucine Picard, Frédéric Rieux-Laucat, Jérémie Rosain   +14 more
doaj   +1 more source

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