Results 51 to 60 of about 27,823 (222)

Exonic variants of the P2RX7 gene in familial multiple sclerosis

Neurología
Several studies have analysed the presence of P2RX7 variants in patients with MS, reporting diverging results.Our study analyses P2RX7 variants detected through whole-exome sequencing (WES).We analysed P2RX7, P2RX4, and CAMKK2 gene variants detected by whole-exome sequencing in all living members (n = 127) of 21 families including at least 2 ...
U. Gómez-Pinedo, L. Torre-Fuentes, J.A. Matías-Guiu, V. Pytel, D.D. Ojeda-Hernández, B. Selma-Calvo, P. Montero-Escribano, L. Vidorreta-Ballesteros, J. Matías-Guiu   +8 more
openaire   +2 more sources

Abundance of clinical variants in exons included in multiple transcripts [PDF]

Human Genomics, 2018
Previous studies showed that the magnitude of selection pressure in constitutive exons is higher than that in alternatively spliced exons. The intensity of selection was also shown to be depended on the inclusion level of exons: the number of transcripts that include an exon.
openaire   +3 more sources

Comprehensive analysis of genomic complexity in the 5’ end coding region of the DMD gene in patients of exons 1–2 duplications based on long-read sequencing

BMC Genomics
Background Dystrophinopathies are the most common X-linked inherited muscle diseases, and the disease-causing gene is DMD. Exonic duplications are a common type of pathogenic variants in the DMD gene, however, 5’ end exonic duplications containing exon 1
Jiandong Shen, Taoli Ding, Xueping Sun, Ji Yang, Yue Zhang, Jing Wang, Mengdi Ge, Heng Xu, Jiazi Xie, Fei Wang, Feiyang Diao   +10 more
doaj   +1 more source

Identification of POMC exonic variants associated with substance dependence and body mass index. [PDF]

PLoS ONE, 2012
Risk of substance dependence (SD) and obesity has been linked to the function of melanocortin peptides encoded by the proopiomelanocortin gene (POMC).POMC exons were Sanger sequenced in 280 African Americans (AAs) and 308 European Americans (EAs).
Fan Wang, Joel Gelernter, Henry R Kranzler, Huiping Zhang   +3 more
doaj   +1 more source

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, Sarcoglycan European Cohort Consortium, Adele D′Amico, Adolfo López de Munain, Alicia Alonso‐Jiménez, Ana Camacho‐Salas, Andrea Gangfuß, Andrés Nascimento, Anna Sarkozy, Anneke J. van der Kooi, Arturo Fraga‐Bau, Béla Melegh, Benedikt Schoser, Bjarne Udd, Blaz Koritnik, Carlos Ortez, Chiara Marini Bettolo, Chiara Panicucci, Claudia Weiss, Claudio Bruno, Claudio Semplicini, Cristina Dominguez‐González, Cristina Garrido, David Gómez‐Andrés, Edoardo Malfatti, Elena Pegoraro, Elke De Vos, Francina Munell, Gabriele Dekomien, Giacomo Pietro Comi, Giorgio Tasca, Isabelle Richard, Jan L. De Bleecker, Jana Haberlová, Jesper Helbo Storgaard, Johanna Palmio, John Vissing, Juan Carlos de Leon‐Hernández, Kinga Hadzsiev, Laura Costa‐Comellas, Lea Leonardis, Leroy ten Dam, Lidia González‐Quereda, Luca Bello, Luisa Politano, Manuela Santos, Marianne de Visser, Marie Rohlenová, Matteo Garibaldi, Michela Guglieri, Nicolas Deconinck, Nicoline Løkken, Omar Abdel‐Mannan, Pia Gallano, Roberto Fernández‐Torrón, Ulrike Schara‐Schmidt, Vincenzo Nigro, Vittoria Zangaro   +72 more
wiley   +1 more source

Variants in exons and in transcription factors affect gene expression in trans [PDF]

Genome Biology, 2013
Abstract Background In recent years many genetic variants (eSNPs) have been reported as associated with expression of transcripts in trans. However, the causal variants and regulatory mechanisms through which they act remain mostly unknown.
Kreimer, Anat, Pe'er, Itsik
openaire   +2 more sources

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

A second hotspot for pathogenic exon-skipping variants in CDC45

European Journal of Human Genetics
AbstractBiallelic pathogenic variants in CDC45 are associated with Meier-Gorlin syndrome with craniosynostosis (MGORS type 7), which also includes short stature and absent/hypoplastic patellae. Identified variants act through a hypomorphic loss of function mechanism, to reduce CDC45 activity and impact DNA replication initiation.
Kelly Schoch, Mischa S. G. Ruegg, Bridget J. Fellows, Joseph Cao, Sabine Uhrig, Stephanie Einsele-Scholz, Saskia Biskup, Samuel R. A. Hawarden, Vincenzo Salpietro, Valeria Capra, Chris M. Brown, Andrea Accogli, Vandana Shashi, Louise S. Bicknell   +13 more
openaire   +2 more sources

Exonic Variants Associated with Development of Aspirin Exacerbated Respiratory Diseases

PLoS ONE, 2014
Aspirin-exacerbated respiratory disease (AERD) is one phenotype of asthma, often occurring in the form of a severe and sudden attack. Due to the time-consuming nature and difficulty of oral aspirin challenge (OAC) for AERD diagnosis, non-invasive biomarkers have been sought.
Shin, Seung-Woo, Park, Byung Lae, Chang, HunSoo, Park, Jong Sook, Bae, Da-Jeong, Song, Hyun-Ji, Choi, Inseon S., Kim, Mi-Kyeong, Park, Hea-Sim, Kim, Lyoung Hyo, Namgoong, Suhg, Kim, Ji On, Shin, Hyoung Doo, Park, Choon-Sik   +13 more
openaire   +5 more sources

MED12 exon 2 mutations in histopathological uterine leiomyoma variants [PDF]

European Journal of Human Genetics, 2013
Uterine leiomyomas, or fibroids, are the most common human tumors. Based on histopathology, they can be divided into common leiomyomas and various relatively rare subtypes that mimic malignancy in one or more aspects. Recently, we showed that exon 2 of mediator complex subunit 12 (MED12) is mutated in up to 70% of common fibroids.
Arola Johanna, Aaltonen Lauri A., Mäkinen Netta, Vahteristo Pia, Butzow Ralf, Arola Johanna, Aaltonen Lauri A., Mäkinen Netta, Vahteristo Pia, Butzow Ralf   +9 more
openaire   +2 more sources