| Characteristics and genotype-phenotype correlations in ADAMTS17 mutation-related Weill-Marchesani syndrome. | Characteristics and genotype-phenotype correlations in ADAMTS17 mutation-related Weill-Marchesani syndrome.
Guo D, Liu L, Yang F, Young CA, Zheng D, Jin G. | 08/28/2023 |
| A common variant rs2054564 in ADAMST17 is associated with susceptibility to lumbar spondylosis. | A common variant rs2054564 in ADAMST17 is associated with susceptibility to lumbar spondylosis.
Taniguchi Y, Akune T, Nishida N, Omori G, Ha K, Ueno K, Saito T, Oichi T, Koike A, Mabuchi A, Oka H, Muraki S, Oshima Y, Kawaguchi H, Nakamura K, Tokunaga K, Tanaka S, Yoshimura N., Free PMC Article | 08/9/2023 |
| The role of ADAMTS6 and ADAMTS17 polymorphisms in susceptibility to lumbar disc herniation in Chinese Han population. | The role of ADAMTS6 and ADAMTS17 polymorphisms in susceptibility to lumbar disc herniation in Chinese Han population.
Han P, Jiang F, Zhang L. | 04/12/2023 |
| A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix. | A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix.
Karoulias SZ, Beyens A, Balic Z, Symoens S, Vandersteen A, Rideout AL, Dickinson J, Callewaert B, Hubmacher D. | 05/29/2021 |
| A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features. | A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features.
Evans DR, Green JS, Fahiminiya S, Majewski J, Fernandez BA, Deardorff MA, Johnson GJ, Whelan JH, Hubmacher D, Apte SS, Care4Rare Canada Consortium, Woods MO., Free PMC Article | 02/13/2021 |
| A novel nonsense mutation c.1051 A > T in ADAMTS17 had been identified caused autosomal recessive WMS in the Chinese family. | A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family.
Yi H, Zha X, Zhu Y, Lv J, Hu S, Kong Y, Wu G, Yang Y, He Y. | 12/7/2019 |
| Secretion of ADAMTS17 requires O-fucosylation. ADAMTS17 binds fibrillin-2 but not fibrillin-1 and does not cleave either. ADAMTS17 regulates fibrillin isoform composition of microfibrils in the eye. | Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease.
Hubmacher D, Schneider M, Berardinelli SJ, Takeuchi H, Willard B, Reinhardt DP, Haltiwanger RS, Apte SS., Free PMC Article | 11/10/2018 |
| higher Adamts17 expression is found in several human cancer cell subtypes, especially in breast ductal carcinoma and there is an inverse correlation between higher Adamts17 expression and patients' survival. | Sp1 is necessary for gene activation of Adamts17 by estrogen.
Jia Z, Gao S, M'Rabet N, De Geyter C, Zhang H. | 05/16/2015 |
| The mutation in the Weill-Marchesani syndrome (WMS)- gene ADAMTS17 also causes WMS in an Indian family. | Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.
Shah MH, Bhat V, Shetty JS, Kumar A, Shah MH, Bhat V, Shetty JS, Kumar A., Free PMC Articles: PMC4057248, PMC4057248 | 10/4/2014 |
| A mutation in WMS-like gene ADAMTS17 also causes WMS. | Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.
Shah MH, Bhat V, Shetty JS, Kumar A, Shah MH, Bhat V, Shetty JS, Kumar A., Free PMC Articles: PMC4057248, PMC4057248 | 06/20/2014 |
| Endothelial protease nexin-1 is a novel regulator of A disintegrin and metalloproteinase 17 maturation and endothelial protein C receptor shedding via furin inhibition. | Endothelial protease nexin-1 is a novel regulator of A disintegrin and metalloproteinase 17 maturation and endothelial protein C receptor shedding via furin inhibition.
Boulaftali Y, François D, Venisse L, Jandrot-Perrus M, Arocas V, Bouton MC. | 08/31/2013 |
| Recessive ADAMTS17 mutations are a recurrent cause of isolated spherophakia with short stature. | Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation.
Khan AO, Aldahmesh MA, Al-Ghadeer H, Mohamed JY, Alkuraya FS. | 03/30/2013 |
| ADAMTS17 is a target gene of the BACH1 transcription factor according to ChIP-seq analysis in HEK 293 cells. | The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.
Warnatz HJ, Schmidt D, Manke T, Piccini I, Sultan M, Borodina T, Balzereit D, Wruck W, Soldatov A, Vingron M, Lehrach H, Yaspo ML., Free PMC Article | 09/14/2011 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variants of ADAMTS1 modify the effectiveness of statins in reducing the risk of myocardial infarction.
Peters BJ, Rodin AS, Klungel OH, Stricker BH, de Boer A, Maitland-van der Zee AH. | 12/5/2010 |
| Homozygous mutation in ADAMTS17 causes lenticular myopia, ectopia lentis, glaucoma, spheropakia, and short stature. | Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.
Morales J, Al-Sharif L, Khalil DS, Shinwari JM, Bavi P, Al-Mahrouqi RA, Al-Rajhi A, Alkuraya FS, Meyer BF, Al Tassan N., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (3) articlesThe role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
Zhao J, Li M, Bradfield JP, Zhang H, Mentch FD, Wang K, Sleiman PM, Kim CE, Glessner JT, Hou C, Keating BJ, Thomas KA, Garris ML, Deliard S, Frackelton EC, Otieno FG, Chiavacci RM, Berkowitz RI, Hakonarson H, Grant SF. Replication of previous genome-wide association studies of bone mineral density in premenopausal American women.
Ichikawa S, Koller DL, Padgett LR, Lai D, Hui SL, Peacock M, Foroud T, Econs MJ. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966.
Sovio U, Bennett AJ, Millwood IY, Molitor J, O'Reilly PF, Timpson NJ, Kaakinen M, Laitinen J, Haukka J, Pillas D, Tzoulaki I, Molitor J, Hoggart C, Coin LJ, Whittaker J, Pouta A, Hartikainen AL, Freimer NB, Widen E, Peltonen L, Elliott P, McCarthy MI, Jarvelin MR. | 03/25/2009 |