Results 121 to 130 of about 9,471 (216)

Generation of an induced pluripotent stem cell line, JHUi005-A, from a Marfan Syndrome patient harboring a pathogenic c.3338-2A>C intronic splicing variant

Stem Cell Research
Marfan Syndrome, a connective tissue disorder caused by Fibrillin-1 (FBN1) gene mutations, induces disease in the ocular, musculoskeletal, and cardiovascular systems and increases aortic vulnerability to rupture associated with high mortality rates.
Franklyn D. Hall, III, Christine N. Miller, Sharon Gerecht, Kenneth R. Boheler   +3 more
doaj   +1 more source

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity-application to four genes:FBN1,FBN2,TGFBR1, andTGFBR2 [PDF]

, 2009
Melissa Yana Frédéric, Marine Lalande, Cathérine Boileau, Dalil Hamroun, Mireille Claustres, Christophe Béroud, Gwenaëlle Collod‐Béroud   +6 more
openalex   +1 more source

Reassessment of FBN1 variants of uncertain significance using updated ClinGen guidance for PP1/BS4 and PP4 criteria [PDF]

Ju Hyeon Shin, Young‐Gon Kim, Shin Yi Jang, June Huh, Duk‐Kyung Kim, Jong‐Won Kim, Ja‐Hyun Jang, Taek Kyu Park, Mi‐Ae Jang   +8 more
openalex   +1 more source

Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndrome

, 1994
Michael Raghunath, C M Kielty, Katariina Kainulainen, Anne H. Child, Leena Peltonen, B Steinmann   +5 more
openalex   +2 more sources

A FBN1 3′UTR mutation variant is associated with endoplasmic reticulum stress in aortic aneurysm in Marfan syndrome

, 2018
Anna‐Maria Siegert, Gerardo Garcia-Díaz Barriga, Anna Esteve‐Codina, Miquel Navas‐Madroñal, Darya Gorbenko del Blanco, Jordi Alberch, Simon Heath, María Galán, Gustavo Egea   +8 more
openalex   +2 more sources

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome

, 2016
Pauline Arnaud, Nadine Hanna, Mélodie Aubart, Bruno Leheup, Sophie Dupuis‐Girod, Sophie Naudion, Didier Lacombe, Olivier Milleron, Sylvie Odent, Laurence Faivre, Laurence Bal, Thomas Édouard, Gwenaëlle Collod‐Béroud, Maud Langeois, Myrtille Spentchian, Laurent Gouya, Guillaume Jondeau, Cathérine Boileau   +17 more
openalex   +2 more sources

The Asp-Encoding Gene FBN1 Mediates Cold Adaptation in Sunite Sheep by Reprogramming Adipocyte Differentiation Towards Thermogenesis. [PDF]

Cells
Meng F, Zi Y, Han C, Zhao M, Wang L, Chang L, Zhou X, Zhou T, Xiao H, Zhang W, Zhang D.   +10 more
europepmc   +1 more source

Dihydroartemisinin Targets the NFIC/FBN1 Cascade to Enhance Wound Healing in Chronic Skin Ulcer by Inhibiting Fibroblast Ferroptosis [PDF]

Zhiyi Wei, Biao Wang, Xiangjian Fang, Juntao Cheng   +3 more
openalex   +1 more source

Enzymatic mutation detection (EMD?) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII [PDF]

, 2000
Rima Youil, Timothy J. Toner, Evelyn Bull, Anne L. Bailey, Christopher D. Earl, Harry C. Dietz, Robert A. Montgomery   +6 more
openalex   +1 more source

Ocular Involvement in a Pediatric Patient with Geleophysic Dysplasia. [PDF]

Diagnostics (Basel)
Wójcik-Niklewska B, Oliwa Z, Sawuła P, Smędowski A.   +3 more
europepmc   +1 more source