Results 221 to 230 of about 141,024 (299)

Identification of a novel nonsense mutation and a recurrent missense mutation in UROS gene in a patient with congenital erythropoietic porphyria. [PDF]

Front Genet
Jia N, Yimin Y, Li M, Jiang L, Liu Y.
europepmc   +1 more source

The β-Chain Mutation p.Arg17Stop Impairs Fibrinogen Synthesis and Secretion: A Nonsense Mutation Associated With Hypofibrinogenemia. [PDF]

J Clin Lab Anal
Qian C, Huang C, Luo Q, Qin K, Wu Y, Liao L, Zhang Q, Xiang L, Yan J.   +8 more
europepmc   +1 more source

Anatomical and functional mapping of vagal nociceptive sensory nerve subsets innervating the mouse lower airways by intersectional genetics

The Journal of Physiology, EarlyView.
Abstract figure legend We used an intersectional approach with recombinase‐expressing mice and adeno‐associated virus to map and modulate distinct nociceptive afferents in the vagal ganglia. TRPV1+P2X2+ neurons resided in the nodose ganglion (N), innervated the lungs (many projected into the alveoli) but not the trachea, and projected to the nucleus ...
Mayur J. Patil, Justin Shane Hooper, Seol‐Hee Kim, Parmvir K. Bahia, Nika Pavelkova, Sanjay S. Nair, Teresa S. Darcey, Karina V. Lurye, Meghana Madaram, Jailene Fiallo, Stephen H. Hadley, Thomas E. Taylor‐Clark   +11 more
wiley   +1 more source

Case report: A novel nonsense mutation in the MARVELD2 gene causes nonsyndromic hearing loss in a China family. [PDF]

Front Genet
Huang C, Huang Z, Wang P, Wu X, Zhou Q, Ding J, Luo Q, Wu W, Fan X, Fan L.   +9 more
europepmc   +1 more source

Giant Pulmonary Hamartoma in a Child: A Case Report

Journal of Paediatrics and Child Health, EarlyView.
Jurgen Schleef, Marianna Carbi, Valentina Kiren, Marco Rabusin, Sergio Ghirardo, Massimo Maschio, Egidio Barbi, Rossana Bussani, Claudio Granata, Anita Spezzacatene   +9 more
wiley   +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

Novel nonsense mutation in gene CHRNA2 identified by whole-genome sequencing in infant with epilepsy disorder: A case report. [PDF]

Heliyon
Makhmetov S, Temirkhanova K, Rakhimova S, Satvaldina N, Kalendar R, Kozhamkulov U, Bolatov A, Bayanova M, Bazenova A, Nazarova L, Akilzhanova A, Kairov U.   +11 more
europepmc   +1 more source

A missense mutation in the γD crystallin gene (CRYGD) associated with autosomal dominant coral-like cataract linked to chromosome 2q [PDF]

, 2004
Andley, Usha P, Mackay, Donna S, Shiels, Alan   +2 more
core   +1 more source

Disabling posttranscriptional regulation of AGO2 results in enhanced viral resistance

New Phytologist, EarlyView.
Márta Ludman, Károly Fátyol
wiley   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1192-1203, June 2026.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source