Results 71 to 80 of about 3,923 (158)

Fibulin‐4 and latent‐transforming growth factor beta‐binding protein‐4 interactions with syndecan‐2 and syndecan‐3 are required for elastogenesis

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, Neha E. H. Dinesh, Valentin Nelea, Nathalie Lamarche‐Vane, Sylvie Ricard‐Blum, Dieter P. Reinhardt   +5 more
wiley   +1 more source

Exposure to potentially teratogenic medications before and during the first trimester of pregnancy compared to women of childbearing age: A retrospective analysis of Swiss claims data (2015–2021)

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, Sereina M. Graber, Daniel Surbek, Alice Panchaud, Christoph R. Meier, Julia Spoendlin   +5 more
wiley   +1 more source

Meretoja's Syndrome: Lattice Corneal Dystrophy, Gelsolin Type [PDF]

, 2017
Lattice corneal dystrophy gelsolin type was first described in 1969 by Jouko Meretoja, a Finnish ophthalmologist. It is caused by an autosomal dominant mutation in gelsolin gene resulting in unstable protein fragments and amyloid deposition in various ...
Abreu, C., Beirão, João, Casal, I., Monteiro, S., Neves, M., Oliveira, L.   +5 more
core   +3 more sources

The first Japanese case of autosomal dominant cutis laxa with a frameshift mutation in exon 30 of the elastin gene complicated by small airway disease with 8 years of follow-up

BMC Pulmonary Medicine
Background Cutis laxa constitutes a diverse group of connective tissue diseases, both inherited and acquired, characterized by loose skin and varying systemic involvement, including pulmonary lesions.
Masanori Kaji, Ho Namkoong, Shotaro Chubachi, Hiromu Tanaka, Takanori Asakura, Mizuha Haraguchi Hashiguchi, Mamiko Yamada, Tomoko Uehara, Hisato Suzuki, Naoya Tanabe, Yoshitake Yamada, Taiki Nozaki, Takeshi Ouchi, Atsutoshi Tsuji, Kenjiro Kosaki, Naoki Hasegawa, Koichi Fukunaga   +16 more
doaj   +1 more source

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, Foudil Lamari, Grant A. Mitchell   +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, Tan, Kendra W, Tarbox, Michelle B, Zhu, Brian   +3 more
core  

Design and analysis of a GaN-based 2D photonic crystal biosensor integrated with machine learning techniques for detection of skin diseases

Scientific Reports
Photonic crystals are prevalent in the detection of assorted diseases and malignancies such as vitiligo and cutis laxa. A 2D photonic crystal utilizing GaN is demonstrated to detect skin diseases, highlighting its substantial relevance to the photonic ...
Harikrishnan N, Sangeetha A
doaj   +1 more source

Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree [PDF]

, 2018
Background: Thoracic aortic aneurysm (TAA) is a potentially life-threatening disorder with a strong genetic component. The number of genes implicated in TAA has increased exponentially over the last decade.
Bekkers, S.C.A.M., Bouma, B.J. (Berto J.), Cozijnsen, L. (Luc), Duijnhouwer, A.L. (Anthonie L.), Hilhorst-Hofstee, Y. (Yvonne), Kempers, M.J.E. (Marlies), Kerstjens-Frederikse, W.S. (Wilhelmina), Lambermon, E. (Eric), Loeys, B.L. (Bart), Post, J. (Johan), Roos-Hesselink, J.W. (Jolien), van Brakel, T.J. (Thomas J.), van de Laar, I.M.B.H. (Ingrid M.B.H.), Verhagen, J.M.A. (Judith), Wessels, M.W. (Marja)   +14 more
core   +1 more source

Extra-renal locations of the a4 subunit of H+ATPase [PDF]

, 2016
Background Vacuolar-type proton pumps help maintain acid–base homeostasis either within intracellular compartments or at specialised plasma membranes. In mammals they are made up of 13 subunits, which form two functional domains. A number
Golder, Zoe J, Karet Frankl, Fiona E
core   +2 more sources

Cutis Laxa syndrome: a case report

The Pan African Medical Journal, 2015
Cutis laxa (CL) is a heterogeneous group of inherited and acquired connective tissue disorders characterized by a loose skin and variable systemic involvement (inguinal hernia, cardiopulmonary disease, and emphysema).
Mohamed Hbibi, Sana Abourazzak, Mounia Idrissi, Sana Chaouki, Samir Atmani, Moustapha Hida   +5 more
doaj   +1 more source