Results 161 to 170 of about 15,020 (275)

MYO6 and Heart: A Novel Variant in a Deaf Infant With Supraventricular Tachycardia

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
A novel homozygous frameshift variant in the MYO6 gene (c.2496_2497delAC; p.H833Qfs*5) was identified in a neonate presenting with bilateral congenital sensorineural hearing loss, paroxysmal supraventricular tachycardia (SVT), and prolonged QT interval.
Samira Kalayinia, Tannaz Masoumi, Amirreza Taherkhani, Nejat Mahdieh, Mohammadrafie Khorgami, Majid Maleki   +5 more
wiley   +1 more source

Phenotypic Refinement of ESAM‐Related Tight‐Junctionopathy: Novel Genetic and Ocular Findings and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Overview of neurological, ocular, and genetic findings in individuals with bi‐allelic loss‐of‐function (LoF) ESAM variants. All affected subjects (n = 21) exhibited characteristic neurovascular and neurodevelopmental anomalies, while 45% also showed ocular (mainly retinal) involvement.
Mauro Lecca, Chiara Bosetti, Federico Ruoli, Liviana Fontanel, Marco Mazza, Enza Maria Valente, Roberta Battini, Edoardo Errichiello   +7 more
wiley   +1 more source

Deciphering a pathogen's evolution: a two-decade longitudinal study reveals virulence shifts and identifies durable Pm genes against Himalayan Blumeria graminis f. sp. tritici populations. [PDF]

Stress Biol
Mehta A, Kaur H, Basandrai D, Basandrai AK, Ahanger SA, Sharma BK, Sharma R, Sharma S, Basu U.   +8 more
europepmc   +1 more source

Nonlinearity in the s°[eta][subscript rel] vs. [rho] relationship for PM2 and [lambda]b2b5c DNA''s

, 1972
Band sedimentation experiments were performed on PM2 and [lambda]b2b5c DNA's, forms I, II and III, in CsCl solutions of varying densities in order to determine the extent of nonlinearity of s°[eta][subscript rel] vs.
Ellison, Joan
core  

Association of a Homozygous TYMP c.131G>C Variant With MNGIE in a Chinese Pedigree: Insights From Genetic Analysis and Computational Modeling

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Researcher highlight: Extending beyond the recently reported compound heterozygous case, we report the same TYMP c.131G>C variant in a homozygous configuration, delivering key genetic evidence for its standalone pathogenicity in MNGIE. ABSTRACT Background Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder ...
Ling Li, Xiu Chen, Hua Li, Kai Guo, Ting Zhang, Mingyi Ma, Songhua Zhao   +6 more
wiley   +1 more source

Genetic Screening of Patients With Inherited Fanconi Syndrome. [PDF]

Kidney Int Rep
Inoki Y, Sakakibara N, Yamamoto A, Kimura Y, Aoyama S, Kondo A, Hanafusa H, Horinouchi T, Yamamura T, Nagano C, Ishimori S, Asato S, Fukuda A, Hashimoto S, Murase T, Nagatani K, Nakaya I, Okamoto T, Takayanagi S, Tanaka H, Tsugawa K, Tsukamoto T, Yamada T, Yamamoto M, Nozu K.   +24 more
europepmc   +1 more source

Estimates of global mortality burden associated with short-term exposure to fine particulate matter (PM2·5)

Background: The acute health effects of short-term (hours to days) exposure to fine particulate matter (PM2·5) have been well documented; however, the global mortality burden attributable to this exposure has not been estimated.
Luke D Knibbs (8673993), Jonathan M Samet (20254413), Yuming Guo (162863), Geoffrey G Morgan (20251716), Michael J Abramson (10176710), Eric Lavigne (3496058), Guy B Marks (13696444), Rongbin Xu (6693566), Alistair Woodward (516511), Jiangning Song (59322), Shanshan Li (114847), Simon Hales (69665), Wenhua Yu (165296), Fay H Johnston (18845800), Tingting Ye (644815), Bin Jalaludin (3488747), Sarah B Henderson (20203026), Jane Heyworth (3559697), Lidia Morawska (1445458), Michelle L Bell (8383131)   +19 more
core  

Functional reassessment of extended splice region variants in MYO7A with hearing loss and Usher syndrome

The Journal of Pathology, Volume 269, Issue 2, Page 222-231, June 2026.
Abstract MYO7A is a causal gene, underlying Usher syndrome type 1B (USH1B) and both autosomal recessive (DFNB2) and dominant (DFNA11) non‐syndromic hearing loss. Despite the large number of reported MYO7A variants (over 2,200), variants located in an extended splice region remain difficult to interpret and are often classified as variants of uncertain ...
Tao Shi, Yu Huang, Xiaohuan Su, Lisheng Yu, Yixin Zhao, Jing Cheng   +5 more
wiley   +1 more source

Propionic acidemia in Mexico: Clinical and genotypic spectrum. [PDF]

Mol Genet Metab Rep
Vela-Amieva M, Alcántara-Ortigoza MA, Guillén-López S, López-Mejía L, González-Del Ángel A, Reyna-Fabián M, Fernández-Hernández L, López-Velázquez G, Mancera-Hernández D, Enríquez-Flores S, Ibarra-González I, Fernández-Lainez C.   +11 more
europepmc   +1 more source

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

Prenatal Diagnosis, Volume 46, Issue 7, Page 1122-1129, June 2026.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin, Tania Dery, Tamar Tenne, Racheli Goldfarb Yaacobi, Emilie Block, Marina Lifshitc Kalis, Hagar Mor‐Shaked, Liza Douiev‐Charpak, Rivka Birnbaum, Mordechai Shohat, Ofer Markovich, Debora Kidron, Rivka Sukenik‐Halevy   +12 more
wiley   +1 more source