Results 41 to 50 of about 2,722 (177)

FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly [PDF]

Journal of Medical Genetics, 2004
Congenital contractures involving multiple joints and a crumpled appearance of the helix of the ear are more common in CCA than MFS. Ectopia lentis is a complication present in approximately half of patients with MFS. The most common cardiovascular complication in patients with MFS is pro- gressive dilatation of the ascending aorta, initially involving
P A, Gupta, D D, Wallis, T O, Chin, H, Northrup, V T, Tran-Fadulu, J A, Towbin, D M, Milewicz   +6 more
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miR-139-5p Was Identified as Biomarker of Different Molecular Subtypes of Breast Carcinoma

Frontiers in Oncology, 2022
Located on chromosome 11q13.4, miR-139-5p has been confirmed by several studies as a possible attractive biomarker for cancer, including breast cancer, but its mechanism of correlation in different molecular subtypes of breast cancer has not been ...
Haohang Sun, Ji Dai, Mengze Chen, Qi Chen, Qiong Xie, Weijun Zhang, Guoqing Li, Meidi Yan   +7 more
doaj   +1 more source

Complementation of the Fbn2^Mz and Fbn2^fp mutations.

, 2013
(A) Typical examples of the clasping phenotype of Fbn2Mz/Fbn2Mz (Mz/Mz) and Fbn2fp/Fbn2fp (fp/fp) parents and an Fbn2Mz/Fbn2fp (Mz/fp) offspring. (B) Grip strength of mice of the three different genotypes (n = 5 males each group).
Sara Wells (106305), Michael Cheeseman (162016), T. Neil Dear (226729), Natalie Holt (367334), Monica Neilan (246872), Valter Tucci (165367), Annabelle Charbit (367335), Zuzanne Lalanne (246889), Graham N. Askew (367336), Nabeia Gheryani (367333), Elizabeth M. C. Fisher (245444), Gaynor Miller (367332), Paul Denny (1194), Ruth Chia (248951)   +13 more
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Construction of a novel miRNA regulatory network and identification of target genes in gestational diabetes mellitus by integrated analysis

Frontiers in Genetics, 2022
Backgrounds: Given the roles of microRNA (miRNA) in human diseases and the high incidence of gestational diabetes mellitus (GDM), the aim of the study was to examine miRNA signatures and crucial pathways, as well as possible biomarkers for GDM diagnosis ...
Liyan Ding, Yi Shen, Anqi Wang, Changlian Lu, Xuefeng Gu, Xuefeng Gu, Liying Jiang   +6 more
doaj   +1 more source

A single nucleotide variant on chromosome 5 residing within FBN2 distinguishes patients with basal-like human breast cancer.

, 2022
Patients diagnosed with basal-like (also known as basal) subtype breast cancer face a more aggressive disease course and more dismal prognosis than patients diagnosed with luminal A and luminal B breast cancer molecular subtypes (1-4).
Shahan Mamoor
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Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly

Clinical Genetics, 2017
No abstract ...
Lavillaureix, A., Heide, S., Chantot-Bastaraud, S., Marey, I., Keren, B., Grigorescu, R., Jouannic, J.M., Gelot, A., Whalen, S., Héron, D., Siffroi, J.P.   +10 more
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Conservation analysis of FBN2 p.C1257 amino acid residue.

, 2016
Conservation analysis of FBN2 p.C1257 amino acid residue.
Lamei Yuan (748098), Yi Guo (35817), Xiong Deng (429533), Hongbo Xu (748097), Liping Guan (420348), Zhi Song (429534), Hao Deng (409186), Jingjing Xiao (491533), Qian Lu (387695), Zhijian Yang (217065), Qiongfen Lin (2795020)   +10 more
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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
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Case Report: Transcatheter treatment of aortic coarctation in a 58-year-old patient with LACHT syndrome and left lung agenesis

Frontiers in Cardiovascular Medicine, 2023
LACHT (Lung Agenesis, Congenital Heart, and Thumb anomalies) syndrome is an extremely rare congenital anomaly and presents significant challenges in adults due to its poor survival rates.
Qingxian Tu, Nanqu Huang, Fujia Guo, Minhong Luo, Min Xu, Jiaji Liu, Zhengqiang Yuan, Qianfeng Jiang   +7 more
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Muscle and fat in Fbn2 null mice on a C57/Bl6 background.

, 2015
(A) H & E stained sections of diaphragm muscle from P0 Fbn2 heterozygous and null littermates. Bar = 50μm. (B) μCT images of skinned and osmicated P25 Fbn2 heterozygous and null littermates showing comparable subcutaneous fat. Bar = 5 mm. (C) μCT section
Francesco Ramirez (22223), Valerie Carlberg (761367), Eric J. Carlson (189254), Douglas R. Keene (46430), Lynn Y. Sakai (189267), Sara F. Tufa (189251), Noe L. Charbonneau (189257), Silvia Smaldone (22222), Gerhard Sengle (189245)   +8 more
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