Results 61 to 70 of about 1,472 (192)

The fibrillin microfibril/elastic fibre network: A critical extracellular supramolecular scaffold to balance skin homoeostasis

Experimental Dermatology, Volume 30, Issue 1, Page 25-37, January 2021., 2021
Abstract Supramolecular networks composed of fibrillins (fibrillin‐1 and fibrillin‐2) and associated ligands form intricate cellular microenvironments which balance skin homoeostasis and direct remodelling. Fibrillins assemble into microfibrils which are not only indispensable for conferring elasticity to the skin, but also control the bioavailability ...
Christin S. Adamo, Alexandra V. Zuk, Gerhard Sengle   +2 more
wiley   +1 more source

Isolated musculocutaneous neuropathy after posterior spine surgery for a patient with a subset of Marfan syndrome: A case report

Interdisciplinary Neurosurgery, 2022
The authors reported a 58-year-old male who suffered from severe low back pain due to kyphoscoliosis associated with congenital contractural arachnodactyly (CCA), a subset of Marfan syndrome.
Chizuo Iwai, Kazunari Fushimi, Satoshi Nozawa, Shingo Komura, Shutaro Sawada, Hiroyasu Ogawa, Haruhiko Akiyama   +6 more
doaj   +1 more source

Genetic architecture of body size in mammals [PDF]

, 2012
Much of the heritability for human stature is caused by mutations of small-to-medium effect.
Goddard, Michael E., Kemper, Kathryn E., Visscher, Peter M.   +2 more
core   +1 more source

A Genome-Wide association Study of Obstructive Heart Defects among Participants in the National Birth Defects Prevention Study [PDF]

, 2022
Obstructive heart defects (OHDs) share common structural lesions in arteries and cardiac valves, accounting for ~25% of all congenital heart defects. OHDs are highly heritable, resulting from interplay among maternal exposures, genetic susceptibilities ...
Bhattacharyya, Sudeepa, Browne, Marilyn L, Cleves, Mario, Hobbs, Charlotte A, Jenkins, Mary M, Lomangino, Kevin, Lou, Xiang-Yang, Mitchell, Laura E, Nembhard, Wendy N, Nestoridi, Eirini, Olshan, Andrew F, Rashkin, Sara R, Romitti, Paul A, Shaw, Gary M, Witte, John S   +14 more
core   +5 more sources

ELN and FBN2 gene variants as risk factors for two sports-related musculoskeletal injuries [PDF]

, 2015
The proteins ELN and FBN2 are important in extracellular matrix function. The ELN rs2071307 and FBN2 rs331079 gene variants have been associated with soft tissue pathologies. We aimed to determine whether these variants were predisposing factors for both
Collins, M, Cook, J, El Khoury, Louis, Handley, C J, Posthumus, Michael, Raleigh, Stuart M, van der Merwe, W   +6 more
core   +1 more source

Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities

Diagnostics, 2022
Background: A long list of syndromic entities can be diagnosed immediately through scrutinizing the clinical phenotype of the craniofacial features. The latter should be assisted via proper radiological interpretations.
Ali Al Kaissi, Sergey Ryabykh, Nabil Nassib, Sami Bouchoucha, Lamia Benjemaa, Imen Rejeb, Syrine Hizem, Vladimir Kenis, Franz Grill, Susanne Gerit Kircher, Mohammad Shboul, Farid Ben Chehida   +11 more
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

Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers–Danlos syndrome: The importance of phenotype‐guided genetic testing

Molecular Genetics &Genomic Medicine, Volume 8, Issue 10, October 2020., 2020
We report on a pediatric patient with skin fragility suggestive for classical Ehlers–Danlos syndrome (cEDS) but without marked skin hyperextensibility, who came to our attention with unconvincing results of an external next generation sequencing (NGS) panel that included all cEDS‐associated genes.
Marco Ritelli, Valeria Cinquina, Marina Venturini, Marina Colombi   +3 more
wiley   +1 more source

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies

Clinical Genetics, Volume 97, Issue 2, Page 235-245, February 2020., 2020
Abstract Genome‐scale high‐throughput sequencing enables the detection of unprecedented numbers of sequence variants. Variant filtering and interpretation are facilitated by mutation databases, in silico tools, and population‐based reference datasets such as ExAC/gnomAD, while variants are classified using the ACMG/AMP guidelines.
Arash Najafi, Sylvan M. Caspar, Janine Meienberg, Marianne Rohrbach, Beat Steinmann, Gabor Matyas   +5 more
wiley   +1 more source

A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation. [PDF]

, 1996
Mice carrying the Tight skin (Tsk) mutation have thickened skin and visceral fibrosis resulting from an accumulation of extracellular matrix molecules.
Buchberg, Arthur M., Christner, Paul J., Jimenez, Sergio A., Ma, Qing, Manne, Jayanthi, McGrath, Rodney, Moskow, John J., Siracusa, Linda D.   +7 more
core   +3 more sources