Results 131 to 140 of about 1,217 (167)

Linear and whorled hypermelanosis: A multicentre retrospective cohort of 33 patients. [PDF]

J Eur Acad Dermatol Venereol
Descos M, Kuentz P, Hadj-Rabia S, Mallet S, Bellon N, Chiaverini C, Grima L, Marque M, Meyer P, Molinari N, Morice-Picard F, Pasteur J, Remize S, Willems M, Bessis D, Groupe de Recherche de la Société Française de Dermatologie Pédiatrique.   +15 more
europepmc   +1 more source

Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios. [PDF]

Am J Hum Genet
Robinson KR, Curtis SW, Paschall JE, Adeyemo WL, Beaty TH, Butali A, Buxó CJ, Cutler DJ, Epstein MP, Gowans LJJ, Hecht JT, Shaw GM, Uribe LM, Murray JC, Brand H, Weinberg SM, Marazita ML, Doheny KF, Leslie-Clarkson EJ.   +18 more
europepmc   +1 more source

Identification of a de novo missense variant in the BRI3BP gene in a Holstein calf with congenital cardiac malformation and carpus valgus. [PDF]

Anim Genet
He C, Grau-Roma L, Schmid R, Häfliger IM, Meylan M, Drögemüller C, Jacinto JGP.   +6 more
europepmc   +1 more source

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort. [PDF]

Genome Med
Stark JC, Pipko N, Liang Y, Szuto A, Tsoi CT, Dickson MA, Yuki KE, Hou H, Scholten S, Pulsifer K, Acker M, Laver M, Murthy H, Moran OM, Bonnell E, Liang N, Sidhu J, Dupuis L, Seno MMG, Care4Rare Canada Consortium, Chard M, Jobling RK, Cameron J, Chami R, Inbar-Feigenberg M, Wilson MD, Chitayat DA, Boycott KM, Kyriakopoulou L, Mendoza-Londono R, Marshall CR, Dowling JJ, Costain G, Deshwar AR.   +33 more
europepmc   +1 more source

2'-O-methylation-dependent installation of N²-methylguanosine in the U6 internal stem loop facilitates efficient spliceosome assembly. [PDF]

Nat Commun
Kleiber N, Petrosyan J, Greve M, Thomé CC, Dybkov O, Tay LLE, Welp LM, Hackert P, Touboul D, Stark H, Bohnsack MT, Urlaub H, Herzel L, Graille M, Höbartner C, Bohnsack KE.   +15 more
europepmc   +1 more source

Deletion of sf3b4 causes splicing defects and gene dysregulation that disrupt craniofacial development and survival. [PDF]

Dis Model Mech
Griffin C, Coppenrath K, Khan D, Lin Z, Horb M, Saint-Jeannet JP.   +5 more
europepmc   +1 more source

An overview of vital functions of human ecdysoneless (ECD), a highly conserved protein. [PDF]

Biosci Rep
Liu K, Cao X, Ma P, Qin A, Zhao J.
europepmc   +1 more source

Craniofacial Defects in Embryos with Homozygous Deletion of Eftud2 in Their Neural Crest Cells Are Not Rescued by Trp53 Deletion

International Journal of Molecular Sciences, 2022
Embryos with homozygous mutation of Eftud2 in their neural crest cells (Eftud2ncc−/−) have brain and craniofacial malformations, hyperactivation of the P53-pathway and die before birth. Treatment of Eftud2ncc−/− embryos with pifithrin-α, a P53-inhibitor, partly improved brain and craniofacial development.
Loydie Anne Jerome-Majewska, Alexia Boucher, Rachel Aber   +2 more
exaly   +4 more sources

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Spliceosome protein EFTUD2 is upregulated in the trophoblast of spontaneous miscarriage and hydatidiform mole

Journal of Reproductive Immunology, 2020
Elongation factor Tu GTP binding domain containing 2 (EFTUD2) is an alternative splicing factor that modulates cell differentiation and activation processes. EFTUD2 is known to modulate immune responses and mutation of the EFTUD2-gene lead to fetal malformation.
Elisa Schmoeckel, Júlia Szekeres-Barthó, Sven Mahner   +2 more
exaly   +4 more sources

Over-activation of EFTUD2 correlates with tumor propagation and poor survival outcomes in hepatocellular carcinoma

Clinical and Translational Oncology, 2021
Elongation factor Tu GTP-binding domain containing 2 (EFTUD2) is an essential constituent of U5 small nuclear ribonucleoproteins (snRNPs) and plays a crucial role in spliceosome activation and cancer. The mechanism of EFTUD2 on carcinogenesis and development of liver cancer still need further study.Bioinformatic analysis was performed to find ...
Biao Gong
exaly   +3 more sources