Results 161 to 170 of about 133,000 (265)

Complete SLC4A11 Detection in Saudi Congenital Hereditary Endothelial Dystrophy: A Transmembrane Glycine Hotspot and a Recurrent Splice Donor Allele in Consanguineous Patients. [PDF]

Int J Mol Sci
Abu-Amero KK, Malik R, AlHilali SM, Jomar DE.   +3 more
europepmc   +1 more source

Coordinated regulation of PIEZO2 by alternative splicing, post‐translational modification, membrane trafficking and protein partners

The Journal of Physiology, EarlyView.
Abstract figure legend Regulatory mechanisms such as alternative splicing, post‐translational modification, membrane trafficking, and protein interactions control channel gating, membrane abundance, and overall activity of PIEZO2. Proper regulation supports PIEZO2‐dependent proprioceptive, somatosensory, nociceptive, pruriceptive and interoceptive ...
Eunice I. Oribamise, Qinglu Li, Mary G. Garry   +2 more
wiley   +1 more source

Pediatric Familial Cerebral Cavernous Malformation Associated With a Novel KRIT1 Initiation-Region Frameshift Variant. [PDF]

Mol Genet Genomic Med
Yayıcı Köken Ö, Yanartaş MS, Aygün H, Ceylan AC, Karaali K, Kazan MS.   +5 more
europepmc   +1 more source

hERG1 channels and potential therapeutics for long QT syndrome

The Journal of Physiology, EarlyView.
Abstract figure legend Prolonged QT results from hERG1 channel dysfunction. (A) Physiological anterograde trafficking of hERG1 channels to the plasma membrane, leading to a normal electrocardiogram. (B) Prolonged QT results from the presence of fewer hERG1 channels on the plasma membrane due to decreased anterograde trafficking or reduced function due ...
Elizabeth H. Schneider, Kelly A. Aromolaran, Michael C. Sanguinetti, Ademuyiwa S. Aromolaran   +3 more
wiley   +1 more source

Engineering suppressor tRNAs for effective treatment of Duchenne muscular dystrophy. [PDF]

Sci Adv
Oury J, Chen YH, McFarland S, Jewel D, Wen J, Pasricha T, Villaseñor S, Mannheim W, Rose V, Zheng S, Thanigai Arasu GS, Calhoun M, Dilts A, Montminy M, Strozewski N, Thakur N, Kaplan PL, Eimon PM, Coller J, Lodish H.   +19 more
europepmc   +1 more source

Biallelic Truncating Variant in LRGUK Is Associated With Severe Multiple Morphological Abnormalities of the Sperm Flagella and Sperm Nuclear Defects in Humans

Clinical Genetics, Volume 110, Issue 5, Page 538-548, November 2026.
A homozygous truncating variant in LRGUK results in loss of the LRGUK protein and causes multiple morphological abnormalities of the flagella (MMAF), disrupted axonemal architecture, central pair defects, abnormal chromatin organization, and severe male infertility, establishing LRGUK as a novel human infertility gene.
Wiâme Mokkedem, Zeina Wehbe, Anne‐Laure Barbotin, Angèle Boursier, Célia Tebbakh, Nicolas Thierry‐Mieg, Marie Bidart, Antonella Migliaccio, Rosanna Chianese, Christophe Arnoult, Raoudha Zouari, Zine‐Eddine Kherraf, Pierre F. Ray, Guillaume Martinez, Charles Coutton   +14 more
wiley   +1 more source

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1

Clinical Genetics, Volume 110, Issue 5, Page 574-583, November 2026.
Integrating trio‐based genomic sequencing with detailed clinical evaluation across seven French–Vietnamese heterotaxy cases alongside a review of 108 published patients reveals strong genotype–phenotype correlations. Variants in DNAH9, PKD1L1, MMP21, and GDF1 define a broad spectrum from isolated situs inversus to complex conotruncal heart defects and ...
Thi Bich Tuyen Ho, Alicia Coudert, Thi Thuy Hang Do, Thi Thanh Thuy Le, Marjolaine Gauthier, Charlotte Dubucs, Jeremie Mortreux, Pauline Monin, Nicolas Chatron, Françoise Devillard, Charles Coutton, Véronique Satre, Radu Harbuz, William Dufour, Louis Januel, Tristan Celse, Clara Paris, Auragen Consortium, Le Tuyet Mai Tran, Huu Tung Trinh, Pierre‐Simon Jouk, Ba Luu Truong, Thi Kim Nhi Nguyen, Julien Thevenon   +23 more
wiley   +1 more source

RNA <i>Cis</i>-Elements Involved in Animal Virus Stop Codon Readthrough: Stop Codon Context and Downstream RNA Structures. [PDF]

Viruses
Kamoshita N.
europepmc   +1 more source

A Novel Homozygous Frameshift Variant in ZNF699 Associated With DEGCAGS Syndrome With Severe Transfusion‐Dependent Anemia in an Indian Child: A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT In children with unexplained multisystem involvement—global developmental delay, dysmorphism, skeletal anomalies, and severe transfusion‐dependent anemia—especially from consanguineous families, whole‐exome sequencing should be pursued early to enable timely diagnosis, proactive iron chelation, and genetic counseling.
Arimanda Chaitanya Laasya Reddy, A. Vamshee Priya, Aditya Pachwa, Boilla Abhignya Reddy, Lakshya Nehal Samineni, Lanka Gourav Reddy   +5 more
wiley   +1 more source

Nonsense mutations can increase mRNA levels. [PDF]

Biol Open
Owuamalam PO, Hossain MN, Brogna S.
europepmc   +1 more source