Results 81 to 90 of about 5,906 (226)
A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia. [PDF]
, 2015 Inguinal hernia repair is one of the most commonly performed operations in the world, yet little is known about the genetic mechanisms that predispose individuals to develop inguinal hernias.
Ahituv, Nadav +8 more
core +2 more sources
The FASEB Journal, Volume 39, Issue 7, 15 April 2025.Molecular mechanisms in cell‐associated elastic fiber assembly. Abstract Elastogenesis is a cell surface‐located hierarchical process that requires the core components tropoelastin and fibrillins and several accessory proteins, including fibulin‐4 (FBLN4) and latent TGF‐β binding protein‐4 (LTBP4).
Hana Hakami +5 more
wiley +1 more source
Sri Lanka Journal of Child Health, 2009 Sri Lanka Journal of Child Health, 2002; 31: 69-70 (Key words: cutis laxa) Normal 0 false false false EN-US X-NONE X-NONE MicrosoftInternetExplorer4
P M G Punchihewa, L P C Saman Kumara
openaire +2 more sources
Acta Obstetricia et Gynecologica Scandinavica, Volume 104, Issue 4, Page 707-719, April 2025.In Switzerland, most dispensed medications with teratogenic effect debated or proven were in the group of weak teratogenicity level. Reassuringly, many women discontinue treatment with potential teratogens before pregnancy. Abstract Introduction Exposure to potentially teratogenic medications during pregnancy is underinvestigated in Switzerland.
Carole A. Marxer +5 more
wiley +1 more source
Targeted disruption of fibulin-4 abolishes elastogenesis and causes perinatal lethality in mice [PDF]
, 2006 Elastic fibers provide tissues with elasticity which is critical to the function of arteries, lungs, skin, and other dynamic organs. Loss of elasticity is a major contributing factor in aging and diseases.
Broekelmann, Thomas J +10 more
core +3 more sources
Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders
Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.ABSTRACT Phosphatidylinositol, a glycerophospholipid with a myo‐inositol head group, can form seven different phosphoinositides (PItds) by phosphorylation at inositol carbons 3, 4 and/or 5. Over 50 kinases and phosphatases participate in PItd metabolism, creating an interconnected PItd network that allows for precise temporal and spatial regulation of ...
Francis Rossignol +2 more
wiley +1 more source
Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors
Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.ABSTRACT Glycerophospholipids (GPLs) are the main lipid components of cellular membranes. They are implicated in membrane structure, vesicle trafficking, neurotransmission, and cell signalling. GPL molecules are amphiphilic, organized around the three carbons of glycerol. Positions sn‐1 and sn‐2 are each esterified to a fatty acid (FA).
Foudil Lamari +2 more
wiley +1 more source
Classic features of primary systemic amyloidosis (AL amyloidosis) leading to diagnosis of plasma cell myeloma [PDF]
, 2019 The diagnosis of primary systemic amyloidosis, also known as AL (amyloid light-chain) amyloidosis, is often delayed owing to its nonspecific manifestations as well as its rarity.
Behrens, Emily +3 more
core
Incomplete cleft palate in a child with De Barsy syndrome
Journal of Cleft Lip Palate and Craniofacial Anomalies, 2018 De Barsy syndrome, a rare genetic disorder, is characterized by progeroid features, cutis laxa, ocular abnormalities, growth retardation, and intellectual disability.
Devi Prasad Mohapatra +2 more
doaj +1 more source