Results 81 to 90 of about 314 (196)

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

Uncovering ASO-Targetable Deep Intronic AIRE Variants: Insights and Therapeutic Implications

DNA and Cell Biology
High-throughput DNA sequencing has accelerated the discovery of disease-causing genetic variants, yet only in 10-40% of cases yield a genetic diagnosis. Increased implementation of genome sequencing has enabled a deeper exploration of the noncoding genome and recognition of noncoding variants as major contributors to disease.
Sebastian Ochoa, Michail S. Lionakis
openaire   +2 more sources

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assays

npj Genomic Medicine
Junctional epidermolysis bullosa (JEB) is characterized by mucocutaneous fragility. We enrolled 69 cases of recessive JEB, with 13.0% of these cases remained genetically undiagnosed following an initial exome sequencing.
Fuying Chen, Ruoqu Wei, Yumeng Wang, Qiaoyu Cao, Jianbo Wang, Chenfei Wang, Dingjin Yao, Zhirong Yao, Cheng Ni, Ming Li   +9 more
doaj   +1 more source

A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type II

American Journal of Medical Genetics Part A
ABSTRACTOsteogenesis imperfecta (OI) is a rare disease, hallmarked by bone fragility, multiple fractures, and deformities, and is commonly caused by pathogenic variants in the genes encoding type I collagen. Type II OI is the most severe form and is lethal in the perinatal period.
Schouw, M.E., Ruivenkamp, C.A.L., Koopmann, T.T., Santen, G.W.E., Nikkels, P.G.J., Tuin, K. van der   +5 more
openaire   +3 more sources

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

Scientific Reports, 2018
Although partial androgen insensitivity syndrome (PAIS) is caused by attenuated responsiveness to androgens, androgen receptor gene (AR) mutations on the coding regions and their splice sites have been identified only in  A).
Hiroyuki Ono, Hirotomo Saitsu, Reiko Horikawa, Shinichi Nakashima, Yumiko Ohkubo, Kumiko Yanagi, Kazuhiko Nakabayashi, Maki Fukami, Yasuko Fujisawa, Tsutomu Ogata   +9 more
doaj   +1 more source

Genetic Biomarkers in the Risk Assessment of Sudden Cardiac Events: A Personalized Approach

iNew Medicine, EarlyView.
Genetic insights into the risk assessment of sudden cardiac events. ABSTRACT Sudden cardiac events are the leading cause of death worldwide. Conventional risk stratification methods, which largely depend on clinical history, imaging, and electrocardiography, are usually inadequate for identifying high‐risk individuals, especially those without visible ...
Shrikant Verma, Sushma Verma, Mohammad Abbas, Tabrez Faruqui, Bashir Ahmad Mir, Farzana Mahdi   +5 more
wiley   +1 more source

Case Report: A case with Xeroderma pigmentosum type F manifested a mild phenotype due to a deep intronic variant of the ERCC4 gene

Journal of Cutaneous Immunology and Allergy
Xeroderma pigmentosum (XP) is a disorder that causes sun sensitivity, pigmented spots in sun-exposed areas, and neurological symptoms due to an inborn error in the DNA repair process for damage caused by sun exposure. We report a case with XP type F (XPF)
Mei Tochigi, Yuko Takamiya, Megumi Morita, Kazushi Anzawa, Akira Shimizu, Sumihito Togi, Hiroki Ura, Yo Niida   +7 more
doaj   +1 more source

Isolating transdiagnostic effects reveals specific genetic profiles in psychiatric disorders

JCPP Advances, EarlyView.
Abstract Background Evidence indicates substantial genetic overlap between psychiatric diagnoses. Accounting for these transdiagnostic effects can sharpen research on disorder‐specific genetic architecture and patterns of comorbidity. Methods We applied genomic structural equation modeling to genome‐wide association study summary statistics from 11 ...
Engin Keser, Wangjingyi Liao, Andrea G. Allegrini, Kaili Rimfeld, Thalia C. Eley, Robert Plomin, Margherita Malanchini   +6 more
wiley   +1 more source