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See also: ADAMTSL2 ADAMTS like 2 in the Gene database

adamtsl2 in Homo sapiensMus musculusRattus norvegicusAll 283 Gene records

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Items: 1 to 20 of 43

1.

Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking.

Piccolo P, Sabatino V, Mithbaokar P, Polishchuck E, Law SK, Magraner-Pardo L, Pons T, Polishchuck R, Brunetti-Pierri N.

Mol Genet Metab Rep. 2019 Sep 5;21:100504. doi: 10.1016/j.ymgmr.2019.100504. eCollection 2019 Dec.

2.

Purification of Recombinant ADAMTSL2.

Singh M, Baldock C.

Methods Mol Biol. 2020;2043:157-172. doi: 10.1007/978-1-4939-9698-8_13.

PMID:
31463910
3.

Molecular Cloning, Lentiviral Transduction, and Expression of Recombinant ADAMTSL2 and ADAMTSL4.

Singh M, Cain SA, Baldock C.

Methods Mol Biol. 2020;2043:137-155. doi: 10.1007/978-1-4939-9698-8_12.

PMID:
31463909
4.

Disruption of the Extracellular Matrix Progressively Impairs Central Nervous System Vascular Maturation Downstream of β-Catenin Signaling.

Jensen LD, Hot B, Ramsköld D, Germano RFV, Yokota C, Giatrellis S, Lauschke VM, Hubmacher D, Li MX, Hupe M, Arnold TD, Sandberg R, Frisén J, Trusohamn M, Martowicz A, Wisniewska-Kruk J, Nyqvist D, Adams RH, Apte SS, Vanhollebeke B, Stenman JM, Kele J.

Arterioscler Thromb Vasc Biol. 2019 Jul;39(7):1432-1447. doi: 10.1161/ATVBAHA.119.312388. Epub 2019 May 9.

5.

Antagonism of BMP signaling is insufficient to induce fibrous differentiation in primary sclerotome.

Ban GI, Williams S, Serra R.

Exp Cell Res. 2019 May 1;378(1):11-20. doi: 10.1016/j.yexcr.2019.01.026. Epub 2019 Feb 25.

PMID:
30817928
6.

Limb- and tendon-specific Adamtsl2 deletion identifies a role for ADAMTSL2 in tendon growth in a mouse model for geleophysic dysplasia.

Hubmacher D, Taye N, Balic Z, Thacker S, Adams SM, Birk DE, Schweitzer R, Apte SS.

Matrix Biol. 2019 Sep;82:38-53. doi: 10.1016/j.matbio.2019.02.001. Epub 2019 Feb 7.

PMID:
30738849
7.

Accommodative esotropia and Brown syndrome in a girl with recessive geleophysic dysplasia.

Khan AO, Schatz P.

J AAPOS. 2019 Apr;23(2):101-102. doi: 10.1016/j.jaapos.2018.07.354. Epub 2018 Nov 8.

PMID:
30415012
8.

Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency.

Delhon L, Mahaut C, Goudin N, Gaudas E, Piquand K, Le Goff W, Cormier-Daire V, Le Goff C.

FASEB J. 2019 Feb;33(2):2707-2718. doi: 10.1096/fj.201800753RR. Epub 2018 Oct 10.

PMID:
30303737
9.

Geleophysic Dysplasia.

Marzin P, Cormier-Daire V.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2009 Sep 22 [updated 2018 Oct 11].

10.

Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care.

Legare JM, Modaff P, Strom SP, Pauli RM, Bartlett HL.

Am J Med Genet A. 2018 Nov;176(11):2237-2242. doi: 10.1002/ajmg.a.40377. Epub 2018 Sep 8.

PMID:
30195254
11.

Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases.

Carneiro TN, Krepischi AC, Costa SS, Tojal da Silva I, Vianna-Morgante AM, Valieris R, Ezquina SA, Bertola DR, Otto PA, Rosenberg C.

Appl Clin Genet. 2018 Aug 22;11:93-98. doi: 10.2147/TACG.S165799. eCollection 2018.

12.

The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes.

Globa E, Zelinska N, Dauber A.

Case Rep Endocrinol. 2018 Jul 3;2018:8212417. doi: 10.1155/2018/8212417. eCollection 2018.

13.

ADAMTS proteins in human disorders.

Mead TJ, Apte SS.

Matrix Biol. 2018 Oct;71-72:225-239. doi: 10.1016/j.matbio.2018.06.002. Epub 2018 Jun 6. Review.

14.

Interactions between lysyl oxidases and ADAMTS proteins suggest a novel crosstalk between two extracellular matrix families.

Aviram R, Zaffryar-Eilot S, Hubmacher D, Grunwald H, Mäki JM, Myllyharju J, Apte SS, Hasson P.

Matrix Biol. 2019 Jan;75-76:114-125. doi: 10.1016/j.matbio.2018.05.003. Epub 2018 May 17.

PMID:
29758265
15.

A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia.

Cheng SW, Luk HM, Chu YWY, Tung YL, Kwan EY, Lo IF, Chung BH.

Eur J Med Genet. 2018 Apr;61(4):219-224. doi: 10.1016/j.ejmg.2017.11.018. Epub 2017 Nov 27. Review.

PMID:
29191498
16.

A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2.

Li D, Dong H, Zheng H, Song J, Li X, Jin Y, Liu Y, Yang Y.

Eur J Med Genet. 2017 Dec;60(12):685-689. doi: 10.1016/j.ejmg.2017.09.003. Epub 2017 Sep 14.

PMID:
28917829
17.

CpG-specific methylation at rheumatoid arthritis diagnosis as a marker of treatment response.

Horsburgh S, Ciechomska M, O'Reilly S.

Epigenomics. 2017 May;9(5):595-597. doi: 10.2217/epi-2017-0011. Epub 2017 Apr 27. No abstract available.

18.

Clinical Phenotype of Musladin-Lueke Syndrome in 2 Beagles.

Packer RA, Logan MA, Guo LT, Apte SS, Bader H, O'Brien DP, Johnson G, Shelton GD.

J Vet Intern Med. 2017 Mar;31(2):532-538. doi: 10.1111/jvim.14654. Epub 2017 Feb 3.

19.

Initial characterization of stiff skin-like syndrome in West Highland white terriers.

Doelle M, Linder KE, Boche J, Jagannathan V, Leeb T, Linek M.

Vet Dermatol. 2016 Jun;27(3):210-e53. doi: 10.1111/vde.12316.

PMID:
27188772
20.

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

McInerney-Leo AM, Le Goff C, Leo PJ, Kenna TJ, Keith P, Harris JE, Steer R, Bole-Feysot C, Nitschke P, Kielty C, Brown MA, Zankl A, Duncan EL, Cormier-Daire V.

J Med Genet. 2016 Jul;53(7):457-64. doi: 10.1136/jmedgenet-2015-103647. Epub 2016 Apr 11.

PMID:
27068007

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