Results 91 to 100 of about 537,790 (185)

Unusual Intronic Variant in GSTP1 in Head and Neck Cancer in Pakistan

Asian Pacific Journal of Cancer Prevention, 2012
In the present case control study mRNA expression of the GSTP1 gene, encoding a phase II enzyme that detoxifies via glutathione conjugation, was investigated using semiquantitative PCR followed by SSCP for 49 confirmed head and neck (HN) cancer and 49 control samples. It was found that GSTP1 was upregulated in significantly higher number of cancers (OR
Nosheen, Masood, Faraz Arshad, Malik, Mahmood Akhtar, Kayani   +2 more
openaire   +3 more sources

Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the AMN Gene: A Case Report

, 2019
Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder clinically characterized by megaloblastic anemia, benign mild proteinuria, and other nonspecific symptoms.
Grazia Gurdo, Stefania Ceppi, Gabriela Stangoni, Maurizio Stefanelli, Alessandra Pacitto, Annalisa Mencarelli, Carla Cerri, Susanna Esposito, Paolo Prontera   +8 more
core   +2 more sources

Human induced pluripotent stem cell line (FDHSi005-A) derived from a patient with a deep intronic variant in the GNE gene

Stem Cell Research
GlcNAc2-epimerase myopathy is a rare autosomal recessive myopathy characterized by distal involvement in the lower extremities. Our study reprogrammed human-induced pluripotent stem cells from peripheral blood mononuclear cells of a patient with GNE gene
Kexin Jiao, Jialong Zhang, Ningning Wang, Xingyu Gu, Xuechun Chang, Xingyu Xia, Bochen Zhu, Mingshi Gao, Nachuan Cheng, Chongbo Zhao, Jianying Xi, Wenhua Zhu   +11 more
doaj   +1 more source

Identification of a pathogenic deep intronic variant in ATRX ends a diagnostic odyssey [PDF]

Variation in the non-coding genome is being increasingly recognized to be involved in monogenic disease etiology. However, the interpretation of non-coding variation is complicated by a lack of understanding of how non-coding genetic elements function ...
van der Smagt, Jasper J., Alders, Mariëlle, van Jaarsveld, Richard H., Houben, Michiel L., Koudijs, Marco J., de Lange, Iris, Lampri, Angeliki P.   +6 more
core  

A Leaky Deep Intronic Splice Variant in CLRN1 Is Associated with Non-Syndromic Retinitis Pigmentosa

Background: Inherited retinal diseases (IRDs) are clinically complex and genetically heterogeneous visual impairment disorders with varying penetrance and severity.
Eyal Banin, Dror Sharon, Samer Khateb, Frans P. M. Cremers, Susanne Roosing, Asodu Sandeep Sarma, Maria Abu Elasal, Daan M. Panneman   +7 more
core   +1 more source

Evaluation of pathogenicity of WT1 intron variants by in vitro splicing analysis

Clinical and Experimental Nephrology
Abstract Background Wilms tumor 1 (WT1; NM_024426) causes Denys–Drash syndrome, Frasier syndrome, or isolated focal segmental glomerulosclerosis. Several WT1 intron variants are pathogenic; however, the pathogenicity of some variants remains undefined.
Seiya Inoue, Atsushi Kondo, Yuta Inoki, Yuta Ichikawa, Yu Tanaka, Chika Ueda, Hideaki Kitakado, Ryota Suzuki, Eri Okada, Nana Sakakibara, Tomoko Horinouchi, Kandai Nozu   +11 more
openaire   +2 more sources

Functional Characterization of a Novel Intronic Complement Factor I Variant in Factor I Deficiency and Atypical Hemolytic Uremic Syndrome

Kidney International Reports
Introduction: The role of noncanonical intronic splice site variants in atypical hemolytic uremic syndrome (aHUS) cases without identified pathogenic variants has long been postulated.
Simon Péter Nagy, Sarolta Dobner, Fanni Szumutku, Alice Schmidt, Gere Sunder-Plassmann, Christof Aigner, Michael Rudnicki, Michal Sedivy, Zoltán Prohászka, Ágnes Szilágyi   +9 more
doaj   +1 more source

A deep intronic PHEX variant associated with X-linked hypophosphatemia in a Finnish family

Hypophosphatemic rickets is a rare bone disease characterized by short stature, bone deformities, impaired bone mineralization, and dental problems. Most commonly, hypophosphatemic rickets is caused by pathogenic variants in the X-chromosomal PHEX gene ...
Pekkinen, Minna, Nevalainen, Pasi I., Koponen, Laura, Hussain, Shabir, Rusanen, Salla, Hussain, S, Makitie, O, Nevalainen, Pasi, Muurinen, M, Wang, F,, Mäkitie, Outi, Legebeke, J, Legebeke, Jelmer, Nevalainen, PI, Muurinen, Mari, Pekkinen, M, Koponen, L, Wang, Fan, Rusanen, S   +18 more
core   +1 more source

Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome.

, 2023
BACKGROUND: Gitelman syndrome is a salt-losing tubulopathy characterized by hypokalemic alkalosis and hypomagnesemia. It is caused by homozygous recessive or compound heterozygous pathogenic variants in SLC12A3 , which encodes the Na + -Cl ...
Kwint, M.P., Blanchard, A., Konrad, M., Neveling, K., Schlingmann, K.P., Bindels, R.J.M., Vargas-Poussou, R., Baaij, J.H.F. de, Latta, F., Viering, D.H.H.M., Hureaux, M.   +10 more
core  

CRISPR Activation Reveals the Spliceogenicity of an Intronic NEB Variant in Fetuses With Arthrogryposis Multiplex Congenita 6

Whole\u2010genome sequencing identifies intronic variants whose pathogenicity can be predicted with tools like SpliceAI. However, an actionable classification of such variants may require RNA\u2010based validation, which can be limited by low expression ...
Frengen, Eirik, Misceo, Doriana, B\uf8en Keim, Sara Margrete, Bj\uf8rnstad, P\ue5l Marius, Jensen, Uffe Birk, Terkelsen, Thorkild, Orszagh, Vivian Cecilie, Strand, Mari Elen   +7 more
core   +1 more source