About: An increased duplication of ZRS region that caused more than one supernumerary digits preaxial polydactyly in a large Chinese family

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About: An increased duplication of ZRS region that caused more than one supernumerary digits preaxial polydactyly in a large Chinese family Goto Sponge NotDistinct Permalink

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scientific article published on 06 December 2016

Attributes	Values
rdf:type	Item
description	videnskabelig artikel (da) article científic (ca) articolo scientifico (it) artigo científico (pt) bilimsel makale (tr) vedecký článok (sk) vetenskaplig artikel (sv) vědecký článek (cs) wetenschappelijk artikel (nl) wissenschaftlicher Artikel (de) научни чланак (sr) article scientifique (fr) artículu científicu espublizáu en 2016 (ast) наукова стаття, опублікована в грудні 2016 (uk) scientific article published on 06 December 2016 (en) مقالة علمية نشرت في 06 ديسمبر 2016 (ar)
publication date	wds:Q37476120-14C66E4D-08EE-439C-8F04-C9D4910EB1D3
publication date	2016-12-06 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q37476120-D1DB7224-06F4-4608-8877-D30236800BF8
language of work or name	English
exact match	wds:Q37476120-3D39047C-A5F4-4331-8D2F-9D1BE0201204
exact match	https://scigraph.springernature.com/pub.10.1038/srep38500
cites work	wds:Q37476120-007E78E7-2369-4B0E-8811-8516FE5A2581 wds:Q37476120-00E61E85-1DF4-42AC-89CF-81413B9C0363 wds:Q37476120-02A36136-9F6D-404D-B740-95AB3D332C1C wds:Q37476120-1AB6BA4C-BA7E-4A37-96BA-1B4FF8D386B4 wds:Q37476120-22CF54C9-0E65-4104-9B28-E26CDD78469F wds:Q37476120-2D1BEA4C-92D8-4F45-8554-1A233B12B662 wds:Q37476120-362AC96D-644C-4CC8-B743-B8280EFA344E wds:Q37476120-37A9E70E-1C49-4687-AAE0-D98A7190158D wds:Q37476120-3F3E2D9E-9F67-4465-B82D-094465B56D9D wds:Q37476120-4530C104-F49B-46D9-BB1C-F46823EA1C8F wds:Q37476120-45E36763-67B8-4D26-9BA2-FFBFA763B052 wds:Q37476120-522DB9A1-9C2F-4F94-9E13-F5EA6600E2DF wds:Q37476120-57E1E03B-7191-4FB4-8010-0717515BAFDC wds:Q37476120-6EB552D2-4F53-4C03-8AC7-937230455205 wds:Q37476120-7F561950-7C64-4F54-B10D-1D56BE69144C wds:Q37476120-8B1BFFF6-2545-4A8E-96C9-7000EA7E0BF8 wds:Q37476120-9A3EF186-476A-4FCB-BD3A-667B55FA3634 wds:Q37476120-9FBC6C1B-C11F-44C2-A1B4-D942B85D2355 wds:Q37476120-A1AF19E9-A049-40EE-A91B-B6D3AA65F175 wds:Q37476120-A5D025E1-581D-423D-8240-C2C5DD7B5A16 wds:Q37476120-BB19ADB5-B448-439D-B2A8-A2CE7FF42723 wds:Q37476120-C1E01D88-4D19-4690-93AA-FD392C3637B4 wds:Q37476120-C6AF0032-70CD-4064-8E5D-878F918557E2 wds:Q37476120-C98B3AD9-E1C8-4862-BE9B-3F03A54C7449 wds:Q37476120-D41EE26D-25F0-4A35-A0D7-19FA113E241B wds:Q37476120-DAD80E6F-64C6-4A61-8BC8-F2E3271D3ACA wds:Q37476120-DD3E492B-8249-48D2-BF79-BD356F460709 wds:Q37476120-F3211655-B15C-4579-93AE-ACA5240E1D68 wds:Q37476120-FAEFCFDB-7697-4633-9958-F6F8A6F2F47C
cites work	Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer. A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly Human HOX gene mutations Integration of growth and specification in chick wing digit-patterning. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13 A syndactyly type IV locus maps to 7q36. Control of Hoxd genes' collinearity during early limb development The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q. Phenotypic variability of triphalangeal thumb-polysyndactyly syndrome linked to chromosome 7q36 A complex bilateral polysyndactyly disease locus maps to chromosome 7q36 Uncoupling Sonic Hedgehog Control of Pattern and Expansion of the Developing Limb Bud Opposing functions of the ETS factor family define Shh spatial expression in limb buds and underlie polydactyly Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly How to make a zone of polarizing activity: insights into limb development via the abnormality preaxial polydactyly A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. Fgf-dependent Etv4/5 activity is required for posterior restriction of Sonic Hedgehog and promoting outgrowth of the vertebrate limb FGF-regulated Etv genes are essential for repressing Shh expression in mouse limb buds cis-regulatory mutations are a genetic cause of human limb malformations Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly Mutation analysis of HOXD13 gene in a Chinese pedigree with synpolydactyly Pbx1/Pbx2 requirement for distal limb patterning is mediated by the hierarchical control of Hox gene spatial distribution and Shh expression Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb Patterning mechanisms controlling digit development Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes A ZRS duplication causes syndactyly type IV with tibial hypoplasia Polydactyly: a study of four generations of a Turkish family including an affected member with bilateral cleft lip and palate [HOXD13 polyalanine tract expansion in synpolydactyly: mutation detection and prenatal diagnosis in a large Chinese family]
author name string	wds:Q37476120-133AFF0A-8373-4BCB-AA90-A8016D1D2E76 wds:Q37476120-1665D090-1243-4F90-8D73-8229083AE24C wds:Q37476120-17148F3E-1936-4E41-98CA-A0515B38FA77 wds:Q37476120-25A6A78D-FC06-4587-ADA4-C7427100CC8E wds:Q37476120-2A42388C-E7AE-42FF-998C-377D8DE83B70 wds:Q37476120-396356ED-DFE1-4883-9DC6-AAFEA027A986 wds:Q37476120-3A085CF6-AC70-4551-8A47-EA15B17ED5D9 wds:Q37476120-5BD76F4D-D96E-4807-9777-6791EC9B8093 wds:Q37476120-6426FCDD-B6B1-4B7F-98B0-4287FA2FD973 wds:Q37476120-ABFAE7D0-A993-4BF2-97B3-BEAE0DA37978 wds:Q37476120-B46F8DA0-26F6-4FD0-81CD-043167D71409 wds:Q37476120-CE11CC06-46C2-499D-840C-992CFBB081C1 wds:Q37476120-E1844442-7176-4E43-8B78-60F71B8FF37E wds:Q37476120-E37AA4A8-D8D2-4022-9D3B-4499A7676DE0
author name string	Qiji Liu Lin Zhao Xia Li Bin Wang Zhen Zhang

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