Results 31 to 40 of about 240,041 (144)

Nosology of genetic skeletal disorders: 2023 revision

American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1164-1209, May 2023., 2023
Abstract The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology.
Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier‐Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti‐Furga   +20 more
wiley   +1 more source

The use of segregation analysis in interpretation of sequence variants in SMAD3: A case report

Molecular Genetics &Genomic Medicine, Volume 11, Issue 2, February 2023., 2023
Genetic testing in the diagnostic setting of familial thoracic aortic aneurysm and dissections can sometimes reveal variants of uncertain significance (VUS), where not enough informative individuals are available to perform extensive segregational analysis. In this paper, we describe two families where we uncovered two VUS in the SMAD3 gene. We present
Aleksandra Ratajska, Magnus D. Vigeland, Katrine Verena Wirgenes, Kirsten Krohg‐Sørensen, Benedicte Paus   +4 more
wiley   +1 more source

Genetic variations in relation to bleeding and pharmacodynamics of dabigatran in Chinese patients with nonvalvular atrial fibrillation: A nationwide multicentre prospective cohort study

Clinical and Translational Medicine, Volume 12, Issue 12, December 2022., 2022
Genetic variations indeed affected outcomes of dabigatran in Chinese NVAF patients. Minor allele carriers of UBASH3B rs2276408 and FBN2 rs3805625 increased bleeding risk. Seventeen identified SNP polymorphisms were associated with pharmacodynamics. Fourteen reported candidate genes were associated with bleeding and pharmacodynamics.
Qian Xiang, Qiufen Xie, Zhiyan Liu, Guangyan Mu, Hanxu Zhang, Shuang Zhou, Zhe Wang, Zining Wang, Yatong Zhang, Zinan Zhao, Dongdong Yuan, Liping Guo, Na Wang, Jing Xiang, Hongtao Song, Jianjun Sun, Jie Jiang, Yimin Cui   +17 more
wiley   +1 more source

The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2

Human Mutation, Volume 43, Issue 7, Page 815-831, July 2022., 2022
The paradigm of opposing phenotypes for both FBN1 and FBN2 suggests shared pathomechanisms. Abstract Different pathogenic variants in the fibrillin‐1 gene (FBN1) cause Marfan syndrome and acromelic dysplasias. Whereas the musculoskeletal features of Marfan syndrome involve tall stature, arachnodactyly, joint hypermobility, and muscle hypoplasia ...
Silke Peeters, Pauline De Kinderen, Josephina A. N. Meester, Aline Verstraeten, Bart L. Loeys   +4 more
wiley   +1 more source

Elastic fibers: formation, function, and fate during aging and disease

The FEBS Journal, Volume 289, Issue 13, Page 3704-3730, July 2022., 2022
Elastic fibers are vital extracellular components of vertebrates providing numerous tissues and organs with the elasticity and resilience required for their function. Here, we review the current knowledge and discuss open questions on the formation, structure, and functions of elastic fibers and how aging and diseases affect their fate over the human ...
Christian E. H. Schmelzer, Laurent Duca
wiley   +1 more source

Dental and Craniofacial Findings in Early Childhood in Oral-Facial-Digital Syndrome Type 1: A Case Report. [PDF]

Case Rep Dent
Background Oral–Facial–Digital Syndrome Type 1 (OFD1) is a genetic disorder marked by diverse malformations of the oral cavity, face, and digits. Case This case report presents a female patient who was first referred to the Department of Pedodontics at Istanbul University at 18 months of age due to the absence of teeth in the upper molar region and who
Saygili S, Kasimoglu Y.
europepmc   +2 more sources

The Fibrillin‐1/VEGFR2/STAT2 signaling axis promotes chemoresistance via modulating glycolysis and angiogenesis in ovarian cancer organoids and cells

Cancer Communications, Volume 42, Issue 3, Page 245-265, March 2022., 2022
Abstract Background Chemotherapy resistance is a primary reason of ovarian cancer therapy failure; hence it is important to investigate the underlying mechanisms of chemotherapy resistance and develop novel potential therapeutic targets. Methods RNA sequencing of cisplatin‐resistant and ‐sensitive (chemoresistant and chemosensitive, respectively ...
Ziliang Wang, Wei Chen, Ling Zuo, Midie Xu, Yong Wu, Jiami Huang, Xu Zhang, Yongheng Li, Jing Wang, Jing Chen, Husheng Wang, Huizhen Sun   +11 more
wiley   +1 more source

Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly. [PDF]

BMC Med Genet, 2016
BackgroundCongenital contractural arachnodactyly (CCA) is an autosomal dominant rare genetic disease, estimated to be less than 1 in 10,000 worldwide.
Guo X, Song C, Shi Y, Li H, Meng W, Yuan Q, Xue J, Xie J, Liang Y, Yuan Y, Yu B, Wang H, Chen Y, Qi L, Li X.   +14 more
europepmc   +3 more sources

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