Results 51 to 60 of about 880,486 (157)

Functional analysis of MEIS2 splice site variant c.438 + 1G>T in a congenital heart patient

Frontiers in Genetics
AimsMEIS2 (NCBI:4212; OMIM:601740) is associated with cleft palate, atrial septal defect, and varying degrees of intellectual disability. The aim of this study is to investigate the value of minigene splicing assay in the diagnosis of congenital heart ...
Chenyu Xu, Junjuan Li, Xinghui Ma, Wenqi Li, Bo Jiang, Hua Bai, Fuhong Wu, Chunlian Liu, Jiwei Gu   +8 more
doaj   +1 more source

Investigating the molecular basis of the serological Rh D‐negative phenotype in Indonesia: nature, frequency, and impact for diagnostics

Transfusion, EarlyView.
Abstract Background Although widely studied and reported for more than 30 years, the molecular basis of Rh D‐negativity has remained unexplored in several regions of the world, including in Indonesia, Southeast Asia. Study Design and Methods A subset of 436 Indonesian blood donors originally typed D‐negative (D–) by routine serological testing was ...
Tonny Wongso, Teguh Triyono, Caroline Bénech, Gauthier Thomas, Sasi Widuri, Martono Adi Triyogo, Ni Kadek Mulyantari, Misnah Syarifuddin, Halimi Maksum, Winda Astuti Taruno, Hasna Fadlilatul Bidayah, Yann Fichou   +11 more
wiley   +1 more source

Splicing defects and CRISPR-Cas9 correction in isogenic homozygous photoreceptor precursors harboring clustered deep-intronic ABCA4 variants

Molecular Therapy: Nucleic Acids
Splicing defects from deep-intronic variants significantly contribute to the mutational spectrum in ABCA4-associated inherited retinal diseases, necessitating functional validation for their pathological classification.
Pietro De Angeli, Arturo Flores-Tufiño, Katarina Stingl, Laura Kühlewein, Eleonora Roschi, Bernd Wissinger, Susanne Kohl   +6 more
doaj   +1 more source

Molecular characterization of CD36 deficiency in blood donors of Middle Eastern and African origin reveals transcript‐level defects beyond genomic variants

Transfusion, EarlyView.
Abstract Background The increasing diversity of blood donor populations has created new challenges for transfusion services worldwide. The identification of donors lacking relevant high‐prevalence antigens is becoming increasingly important to ensure compatible blood products for alloimmunized patients and to support the development of rare donor ...
Sarah Petermann, Inga Stellmacher, Brigitte K. Flesch, Tanja Rehling, Irina Häcker, Marc F. Schetelig, Alexander Carbol, Lambros Kordelas   +7 more
wiley   +1 more source

Splicing functional assays of a single minigene with eight exons of the BRCA2 gene [PDF]

, 2015
Resumen del póster presentado a la European Human Genetics Conference celebrada en Nuremberg (Alemania) del 23 al 26 de junio de 2012.Splicing disruptions is one key pathogenic mechanism in inherited diseases.
Acedo, Alberto, Curiel-García, Álvaro, Durán, Mercedes, Díez-Gómez, Beatriz, Hernández-Moro, Cristina, Velasco, Eladio, Infante, Mar, Miner, Cristina   +7 more
core   +1 more source

Novel biallelic splicing and deletion variants of ADAMTS3 found in adult patients with Hennekam lymphangiectasia-lymphedema syndrome 3

BMJ Connections Clinical Genetics and Genomics
Background ADAM metallopeptidase with thrombospondin type 1 motif 3 (ADAMTS3) is one of the causative genes for the Hennekam lymphangiectasia-lymphedema syndrome (HKLLS), an autosomal recessive genetic disorder. Here, we reported novel biallelic variants
Yoichi Matsubara, Masahiro Sato, Arisa Igarashi, Yoshio Makita, Nana Kobayashi, Yukimi Abe, Taiga Aoki, Takaya Iida, Masahiko Yamamori, Kumiko Yanagi, Kazuhito Sato, Tadashi Kaname   +11 more
doaj   +1 more source

A deep intronic splice variant of the COL4A5 gene in a Chinese family with X-linked Alport syndrome

Frontiers in Pediatrics, 2023
BackgroundX-linked Alport syndrome (XLAS) is caused by pathogenic variants in COL4A5 and is characterized by progressive kidney disease, hearing loss, and ocular abnormalities.The aim of this study was to identify gene mutations in a Chinese family with ...
Pei Qian, Ying Bao, Hui-mei Huang, Lei Suo, Yan Han, Zhi-juan Li, Min Zhang   +6 more
doaj   +1 more source

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, Volume 13, Issue 9, Page 1851-1865, September 2026.
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

Case report: Altered pre-mRNA splicing caused by intronic variant c.1499 + 1G > A in the SLC4A4 gene

Frontiers in Pediatrics, 2022
Proximal renal tubular acidosis (pRTA) with ocular abnormalities is an autosomal recessive disease caused by variants in the Solute Carrier Family 4 Member 4 (SLC4A4) gene. Patients present with metabolic acidosis and low plasma bicarbonate concentration
Yan Liu, Wenchao Sheng, Wenchao Sheng, Wenchao Sheng, Jinying Wu, Jinying Wu, Jie Zheng, Jie Zheng, Xiufang Zhi, Xiufang Zhi, Xiufang Zhi, Shuyue Zhang, Shuyue Zhang, Shuyue Zhang, Chunyu Gu, Chunyu Gu, Chunyu Gu, Detong Guo, Detong Guo, Detong Guo, Wenhong Wang   +20 more
doaj   +1 more source

RNA‐Binding Proteins: Function, Biological Mechanisms, and Therapeutic Opportunities

MedComm, Volume 7, Issue 9, September 2026.
RNA‐binding proteins (RBPs) regulate RNA stability, localization, translation, and splicing through intrinsic binding domains and interactions with diverse cellular partners. Their competitive and cooperative networks shape disease‐related RNA programs, especially in cancer.
Ling Li, Xiuli Yan, Qing Ji, Hui Zhang
wiley   +1 more source