Results 111 to 120 of about 3,834 (197)

Multiple exostoses gene, EXT1 and heparan sulfate biosynthesis

, 2002
Hereditary multiple exostoses (HME), a dominantly inherited genetic disorder characterized by multiple cartilaginous tumors, is caused by mutations in members of the EXT gene family, EXT1 and EXT2.
Cheung, Peter Kwai-yin
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Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses.

, 1999
Hereditary multiple exostoses (EXT) is an autosomal dominantly inherited disease characterized by the formation of cartilage-capped prominences (exostoses) that develop from the juxtaepiphyseal regions of the long bones.
Ku, JL, Park, JG, Monaco, Anthony, Shin, KH, Lee, SH, Monaco, AP, Park, KJ, Phillipe, C, Cho, TJ, Choi, IH, Porter, DE   +10 more
core   +1 more source

Ext1^+/-Ext2^+/- mice have a normal MAP and are not salt sensitive.

, 2019
A) Ext1+/-Ext2+/- (90±2 mmHg, n = 6) and control (91±2 mmHg, n = 5) mice had a comparable tail-cuff MAP on a NSD (p = 0.76). (B) Ext1+/-Ext2+/- (82±2.0 mmHg, n = 10) and control mice (87±3 mmHg, n = 6, p = 0.15) had an equal MAP on a HSD.
Angela van Weert (633467), Ed van Bavel (7109552), Judith de Vos (633466), Jens M. Titze (7109549), Naomi van Vlies (800568), Yahua Zhang (7109546), Bert-Jan H. van den Born (213345), Rik H. G. Olde Engberink (7109543), Liffert Vogt (162013)   +8 more
core   +1 more source

The roles of ext1 and ext2 in heparan sulfate polymerization and hereditary multiple exostoses

, 2000
A human cDNA library was screened for the ability to restore susceptibility to herpes simplex virus (HSV) infection in sog9 cells, a normally HSV-resistant murine L cell line. After extensive screening, a single cDNA was isolated that could completely
McCormick, Craig
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EXT1 Gene [PDF]

, 2020
openaire   +1 more source

EXT1 wt Allele [PDF]

, 2020
openaire   +1 more source

A Novel Pathogenic Large Duplication in EXT1 Identified in a Family with Multiple Osteochondromas

Genes
Multiple osteochondromas (MO) is an autosomal dominant disorder and the most common genetic skeletal dysplasia, characterized by the growth of bone outgrowths capped by cartilage, called osteochondromas. Most MO cases are caused by mutations in the exostosin-1 (EXT1) and exostosin-2 (EXT2) genes.
Isabella Bartolotti, Klaudia Sobul, Serena Corsini, Davide Scognamiglio, Alice Moroni, Maria Gnoli, Luca Sangiorgi, Elena Pedrini   +7 more
openaire   +2 more sources

Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas

Therapeutics and Clinical Risk Management, 2016
Susan Akbaroghli,1,* Maryam Balali,2,* Behnam Kamalidehghan,3,4 Siamak Saber,4 Omid Aryani,5 Goh Yong Meng,6 Massoud Houshmand4 1Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, 2ENT and Head & Neck Research Center ...
Akbaroghli S, Balali M, Kamalidehghan B, Saber S, Aryani O, Yong Meng G, Houshmand M   +6 more
doaj  

Ext1^+/-Ext2^+/- mice have a decreased skin water and sodium content.

, 2019
(A) Skin sodium content was lower in Ext1+/-Ext2+/- mice than in controls (p = 0.004). (A-B) HSD increased skin sodium content in Ext1+/-Ext2+/- mice (15±6%, p = 0.003) to a level that were similar to controls on a HSD (p = 0.18). Skin sodium content was
Angela van Weert (633467), Ed van Bavel (7109552), Judith de Vos (633466), Jens M. Titze (7109549), Naomi van Vlies (800568), Yahua Zhang (7109546), Bert-Jan H. van den Born (213345), Rik H. G. Olde Engberink (7109543), Liffert Vogt (162013)   +8 more
core   +1 more source

Over Expression of CNP Enhances the Formation of Long Bone Exostoses in Ext1+/- mice

, 2012
Multiple hereditary exostoses (MHE) is an autosomal dominant skeletal disorder caused by heterozygous loss-of-function mutations in either EXT1 or EXT2.
Warman, M. L, Bukulmez, H., Fernando, C., Esko D., J., Khan, F., Bartels, C.   +5 more
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