Results 241 to 250 of about 2,214,382 (367)

BLOOD FLOW MEASUREMENTS IN CONGENITAL VASCULAR ABNORMALITIES OF THE LOWER LIMBS [PDF]

, 1977
Anthony E. Young, J. B. Kinmonth, D L Rutt, John F. Crigler   +3 more
openalex   +1 more source

NSAIDS AS MODULATORS OF CATION CHANNELS: FENAMATES REPURPOSING IN CHANNELOPATHIES

ChemMedChem, Accepted Article.
Cationic ion channels are transmembrane proteins that regulate the flux of cations (potassium, sodium, and calcium) across cell membrane, playing a pivotal role in many cellular functions. Disruptions of their activity can lead to the so‐called genetic or acquired channelopathies, a heterogeneous group of diseases that affect multiple human systems ...
Paola Laghetti, Concetta Altamura, Simone Dell’Atti, Jean-François Desaphy, Ilaria Saltarella   +4 more
wiley   +1 more source

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

Hepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid, Victor Olsavszky, Manuel Reinhart, Vanessa Weyer, Felix A. Trogisch, Carsten Sticht, Manuel Winkler, Sina W. Kürschner, Johannes Hoffmann, Roxana Ola, Theresa Staniczek, Joerg Heineke, Beate K. Straub, Jens Mittler, Kai Schledzewski, Peter ten Dijke, Karsten Richter, Steven Dooley, Cyrill Géraud, Sergij Goerdt, Philipp‐Sebastian Koch   +20 more
wiley   +1 more source

Two congenital neurological abnormalities caused by thalidomide. [PDF]

, 1977
Raymond P. Murphy, Peter Möhr
openalex   +1 more source

Congenital abnormalities and other birth outcomes in children born to women with ulcerative colitis in Denmark and Sweden

Inflammatory Bowel Diseases, 2011
O. Stephansson, H. Larsson, L. Pedersen, H. Kieler, F. Granath, J. Ludvigsson, H. Falconer, A. Ekbom, H. T. S&phgr;rensen, Mette N&phgr;rgaard   +9 more
semanticscholar   +1 more source

Manganese Neurotoxicity and Familial Disorders of Manganese Transport

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Manganese is the 12th most common element in the Earth's crust and is an essential industrial component. Biologically, this metal plays an important role as a constituent of numerous enzymes. While manganese is required for normal biochemical and physiological processes, manganese excess can lead to significant toxicity, particularly to the ...
Sidney M. Gospe Jr.
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

An extra small metacentric chromosome in association with multiple congenital abnormalities. [PDF]

, 1971
W H Finley, Sara Finley, D Monsky
openalex   +1 more source

Congenital Abnormalities of the Hands [PDF]

Proceedings of the Royal Society of Medicine, 1930
openaire   +3 more sources

Is there a reduction of congenital abnormalities in the offspring of diabetic pregnant women after folic acid supplementation? A population‐based case‐control study

Congenital Anomalies, 2011
F. Bánhidy, Abdallah Dakhlaoui, E. Puhó, A. Czeizel   +3 more
semanticscholar   +1 more source