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COL9A2 gene
Known as:
COL9A2
, collagen type IX alpha 2
, COLLAGEN, TYPE IX, ALPHA-2
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National Institutes of Health
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Related topics
1 relation
COL9A1 gene
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
MRI Phenotyping of COL9A2/Trp2 and COL9A3/Trp3 Alleles in Lumbar Disc Disease: A Case-control Study in South-Western Iranian Population Reveals a Significant Trp3-Disease Association in Males
M. Bagheri
,
Amir P Honarpisheh
,
M. Yavarian
,
Zahra Alavi
,
J. Siegelman
,
V. Valtchinov
Spine
2016
Corpus ID: 19448143
Study Design. A case-control study of the Trp2/3 alleles of COL9A2/3 genes and their correlation with occurrence of Lumbar disc…
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2016
2016
Exome sequencing in Thai patients with familial obesity.
S. Kaewsutthi
,
Jeerunda Santiprabhob
,
B. Phonrat
,
A. Tungtrongchitr
,
P. Lertrit
,
R. Tungtrongchitr
Genetics and Molecular Research
2016
Corpus ID: 23353273
Obesity is a major worldwide health issue, with increasing prevalence in adults and children from developed and developing…
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2011
2011
A Case of Stickler Syndrome Type I Caused by a Novel Variant of COL2A1 Gene
J. Lee
,
C. Jung
,
Gu-Hwan Kim
,
B. Lee
,
Jin-Ho Choi
,
H. Yoo
2011
Corpus ID: 74284398
Stickler syndrome is a very rare connective tissue disorder. The authors of the present study describe an 11-month-old girl with…
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2007
2007
Polymorphic microsatellite markers for genetic analysis of collagen genes in suspected collagenopathies in dogs.
J. Temwichitr
,
H. Hazewinkel
,
M. Hagen
,
P. Leegwater
Journal of veterinary medicine. A, Physiology…
2007
Corpus ID: 33798123
Defects in collagen proteins cause a variety of disorders in humans. It can be expected that collagen gene mutations are involved…
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2006
2006
Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2)
Mitsuhiko Takahashi
,
Y. Matsui
,
+4 authors
N. Yasui
Clinical Rheumatology
2006
Corpus ID: 7753058
We describe a Japanese family with an autosomal dominant multiple epiphyseal dysplasia (MED EDM2) showing significant phenotypic…
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2005
2005
Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations
E. Jakkula
,
O. Mäkitie
,
+6 authors
L. Ala‐kokko
European Journal of Human Genetics
2005
Corpus ID: 8985139
Correction to: European Journal of Human Genetics (2005) 13, 292–301. doi:10.1038/sj.ejhg.5201314 The author name Malwina Czarny…
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2005
2005
Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia
E. Nakashima
,
H. Kitoh
,
+6 authors
S. Ikegawa
American Journal of Medical Genetics. Part A
2005
Corpus ID: 22090136
Multiple epiphyseal dysplasia (MED) is a common skeletal dysplasia characterized by mild to moderate short stature, early‐onset…
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2005
2005
Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations
E. Jakkula
,
O. Mäkitie
,
+6 authors
L. Ala‐kokko
European Journal of Human Genetics
2005
Corpus ID: 23614081
Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous chondrodysplasia. Mutations in six genes (COMP…
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1995
1995
Molecular cloning of the alpha 3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3.
R. G. Brewton
,
B. M. Wood
,
+7 authors
J. Baker
Genomics
1995
Corpus ID: 44482771
Type IX collagen is composed of three polypeptides derived from the human genes COL9A1, COL9A2, and COL9A3 that assemble to form…
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1994
1994
The genes encoding alpha 2(IX) collagen (COL9A2) map to human chromosome 1p32.3-p33 and mouse chromosome 4.
M. Warman
,
M. McCarthy
,
+6 authors
B. Olsen
Genomics
1994
Corpus ID: 43492434
We have determined the chromosomal locations of the human and murine genes coding for alpha 2(IX) collagen, a polypeptide subunit…
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