Results 41 to 50 of about 598 (144)

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

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

Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family

BMC Medical Genomics, 2022
Background Osteogenesis imperfecta (OI) is the most common monogenic disease of the skeletal system and is usually caused by mutations in the COL1A1 or COL1A2 genes.
Jing Chen, Qinqin Xiang, Xiao Xiao, Bocheng Xu, Hanbing Xie, He Wang, Mei Yang, Shanling Liu   +7 more
doaj   +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

Table1_Case report: Identification of novel fibrillin-2 variants impacting disulfide bond and causing congenital contractural arachnodactyly.docx

, 2023
Background: Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder with clinical features of arthrogryposis, arachnodactyly, crumpled ears, scoliosis, and muscular hypoplasia. The heterozygous pathogenic variants
Jie-Yuan Jin (8888750), Ji-Qiang He (8888756), Lei Zeng (254605), Rong Xiang (164808), An-Lei Li (14712388), Min Wang (21070), Yi-Qiao Hu (3474653), Jie-Yi Long (14712391), Si-Hua Chang (14712394)   +8 more
core   +1 more source

Table1_Identification of Novel FBN2 Variants in a Cohort of Congenital Contractural Arachnodactyly.pdf

, 2022
Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant disorder of connective tissue characterized by crumpled ears, arachnodactyly, camptodactyly, large joint contracture, and kyphoscoliosis. The nature course of CCA has not been well-
Zhihong Wu (224503), Dan Chen (32468), Yuchen Niu (8104454), Wen Tian (1697821), Terry Jianguo Zhang (8700906), Liying Sun (420245), Nan Zhang (46264), Junhui Zhao (626062), Yang Guo (399435), Zongxuan Zhao (12220886), Qingyang Li (2443405), Guixing Qiu (224508), Ge Xiong (8294508), Nan Wu (200090), Zefu Chen (9381245), Wenyao Zhong (9520543), Sen Zhao (2232103), Jile Shi (12220883), Xiaoxin Li (128947), Yingzhao Huang (9381251), Yuehan Yin (9520546)   +20 more
core   +1 more source

Marfan Syndrome, A Review

Journal of Biomedicine and Translational Research, 2018
Marfan syndrome is named after the French pediatrician Antoine Bernard-Jean Marfan who described in 1896 a girl with arachnodactyly and long limbs1. The patient also had congenital contractures of the elbows and would not fulfill the current criteria for
Gerard Pals
doaj   +1 more source

Familial chilblain and late contractural arachnodactyly: A novel association?

, 2009
We report an Italian family suffering from chilblain. Seven members over three generations affected, two of them presenting association with late contractural arachnodactyly.
PIGA, MATTEO, MATHIEU, ALESSANDRO, CAULI, ALBERTO, Porru G, VACCA, ALESSANDRA   +4 more
core   +1 more source