نتایج جستجو برای: COL11A1

تعداد نتایج: 147  

2015
Anthony Hafez Ryan Squires Amber Pedracini Alark Joshi Robert E. Seegmiller Julia Thom Oxford

Collagen XI alpha 1 (Col11a1) is an extracellular matrix molecule required for embryonic development with a role in both nucleating the formation of fibrils and regulating the diameter of heterotypic fibrils during collagen fibrillar assembly. Although found in many different tissues throughout the vertebrate body, Col11a1 plays an essential role in endochondral ossification. To further underst...

2013
Emma V A Raine Andrew W Dodd Louise N Reynard John Loughlin

BACKGROUND The single nucleotide polymorphism (SNP) rs2615977 is associated with osteoarthritis (OA) and is located in intron 31 of COL11A1, a strong candidate gene for this degenerative musculoskeletal disease. Furthermore, the common non-synonymous COL11A1 SNP rs1676486 is associated with another degenerative musculoskeletal disease, lumbar disc herniation (LDH). rs1676486 is a C-T transition...

2015
Javier Freire Lucia García-Berbel Pilar García-Berbel Saray Pereda Ainara Azueta Pilar García-Arranz Ana De Juan Alfonso Vega Ángela Hens Ana Enguita Pedro Muñoz-Cacho Javier Gómez-Román

Despite the progress achieved in the treatment of breast cancer, there are still many unsolved clinical issues, being the diagnosis, prognosis, and treatment of papillary diseases, one of the highest challenges. Because of its unpredictable clinical behavior, treatment of intraductal papilloma has generated a great controversy. Even though considered as a benign lesion, it presents high rate of...

2016
Xun Wang Xiaoyun Jia Xueshan Xiao Shiqiang Li Jie Li Yadi Li Yantao Wei Xiaoling Liang Xiangming Guo

PURPOSE To identify mutations in COL2A1 and COL11A1 genes and to examine the genotype-phenotype correlation in a cohort of Chinese patients with Stickler syndrome. METHODS A total of 16 Chinese probands with Stickler syndrome were recruited, including nine with a family history of an autosomal dominant pattern and seven sporadic cases. All patients underwent full ocular and systemic examinati...

Journal: :Medical research archives 2023

Background: Collagen type XI, alpha 1 (COL11A1) is a minor component of extracellular matrix and its overexpression associated with tumoral progression poorer outcome in several human cancers; data on breast cancer are promising but scarce. FGD3 expression has been shown to be strong independent prognostic factor cancer. The aim our study was investigate whether COL11A1 correlates other classic...

2013
Allan J Richards Gregory S Fincham Annie McNinch David Hill Arabella V Poulson Bruce Castle Melissa M Lees Anthony T Moore John D Scott Martin P Snead

BACKGROUND Stickler syndromes types 1, 2 and 3 are usually dominant disorders caused by mutations in the genes COL2A1, COL11A1 and COL11A2 that encode the fibrillar collagens types II and XI present in cartilage and vitreous. Rare recessive forms of Stickler syndrome exist that are due to mutations in genes encoding type IX collagen (COL9A1 type 4 Stickler syndrome and COL9A2 type 5 Stickler sy...

2013
Carmen García-Pravia José A. Galván Natalia Gutiérrez-Corral Lorena Solar-García Eva García-Pérez Marcos García-Ocaña Jokin Del Amo-Iribarren Primitiva Menéndez-Rodríguez Juan García-García Juan R. de los Toyos Laureano Simón-Buela Luis Barneo

BACKGROUND The collagen11A1 (COL11A1) gene is overexpressed in pancreatic cancer. The expression of COL11A1 protein could be involved in desmoplastic events in pancreatic cancer, but an antibody that specifically stains the COL11A1 protein is not currently available. METHODS AND FINDINGS A total of 54 pancreatic ductal adenocarcinomas (PDAC), 23 chronic pancreatitis (CP) samples, and cultured...

2017
Asma Dabiri Kaveh Baghaei Mehrdad Hashemi Shekoofeh Sadravi Habib Malekpour Manijeh Habibi Farhad Lahmi

Aim Due to limited information on these genes and to a better understanding of common biomarkers associated with cancer of the digestive tract routes, we aim to evaluated expression level of Olfactomedin4 (OLFM4) and (pro)collagen11A1/COL11A1 genes in people with gastric cancer in Iran. Background Gastric cancer is one of the main cause of cancer death. The early prognosis of gastric cancer i...

Journal: :Investigative ophthalmology & visual science 2014
Yuhong Chen Xueli Chen Li Wang Guy Hughes Shaohong Qian Xinghuai Sun

PURPOSE To investigate the association of PLEKHA7 and COL11A1 with primary angle closure glaucoma, as well as acute and chronic subphenotype, in a Han Chinese population. METHODS A total of 984 cases, including 606 primary angle closure glaucoma (PACG) and 378 primary angle closure (PAC), and 922 normal controls were recruited. Twelve single nucleotide polymorphisms (SNPs) (rs1676486, rs37538...

Journal: :American journal of human genetics 1999
S Annunen J Körkkö M Czarny M L Warman H G Brunner H Kääriäinen J B Mulliken L Tranebjaerg D G Brooks G F Cox J R Cruysberg M A Curtis S L Davenport C A Friedrich I Kaitila M R Krawczynski A Latos-Bielenska S Mukai B R Olsen N Shinno M Somer M Vikkula J Zlotogora D J Prockop L Ala-Kokko

Stickler and Marshall syndromes are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Since the characteristics of these syndromes overlap, it has been argued whether they are distinct entities or different manifestations of a single syndrome. Several mutations causing Stickler syndrome have been found in the COL2A1 gen...

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