Results 211 to 220 of about 120,211 (290)

Case Report: A novel CIITA mutation causing MHC class II deficiency: first reported case in Morocco. [PDF]

Front Immunol
Kattra AB, Ailal F, Benhsaien I, Fahi M, Drissi Bourhanbour A, Elamine A, Aadam Z, Errami A, Bousfiha AA, El Bakkouri J.   +9 more
europepmc   +1 more source

Nonsense Mutations in Close Proximity to the Initiation Codon Fail to Trigger Full Nonsense-mediated mRNA Decay

, 2004
Ângela Inácio, Ana Luísa Silva, Joana Borges Soares Ataíde Pinto, Xinjun Ji, Ana Morgado, Fátima Almeida, Paula Faustino, João Lavinha, Stephen A. Liebhaber, Luı́sa Romão   +9 more
openalex   +1 more source

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, EarlyView.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source

LRP6 β-Propeller Destabilization: Novel Variant, Phenotype and Diagnostic Implications in Tooth Agenesis. [PDF]

Int Dent J
Intarak N, Ghasemnejad T, Fakhruddin KS, Kamal A, Prommanee S, Jahanian KH, Lovell NH, Alinejad-Rokny H, Porntaveetus T.   +8 more
europepmc   +1 more source

Inhibition of nonsense-mediated decay in TDP-43 deficient neurons reveals novel cryptic exons [PDF]

Irika R. Sinha, Yingzhi Ye, Yini Li, Parker S. Sandal, Philip C. Wong, Shuying Sun, Jonathan P. Ling   +6 more
openalex   +1 more source

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, EarlyView.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

Novel compound heterozygous <i>ALPK3</i> mutations (c.4234C>T and c.3491G>A), causing hypertrophic cardiomyopathy treated with the liwen procedure: case report. [PDF]

Front Cardiovasc Med
Liu WJ, Hua Y, Jiao FH, Hu HY, Xu WJ, Wang YN, Duan LP, Zhao XF, Zhang RJ, Chang C.   +9 more
europepmc   +1 more source

Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle

Developmental Dynamics, EarlyView.
Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell, Tracy Eng, Jeffrey D. Amack, David Pruyne   +3 more
wiley   +1 more source

Identification of Additional Cases of Severe Neonatal GABA-Transaminase Deficiency. [PDF]

JIMD Rep
Alammary D, Low T, Srinivasan G, Dery MC, Almutadares M, Marin S, Rafay MF, Rozovsky K, Frosk P.   +8 more
europepmc   +1 more source