Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree.

about

Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree.

Item

http://www.wikidata.org/entity/Q49290104

description

2018 nî lūn-bûn

@nan

2018年の論文

@ja

2018年学术文章

@wuu

2018年学术文章

@zh

2018年学术文章

@zh-cn

2018年学术文章

@zh-hans

2018年学术文章

@zh-my

2018年学术文章

@zh-sg

2018年學術文章

@yue

2018年學術文章

@zh-hant

name

Contiguous 22.1-kb deletion em ...... sipidus in a Chinese pedigree.

@en

Contiguous 22.1-kb deletion em ...... sipidus in a Chinese pedigree.

@nl

type

Item

label

Contiguous 22.1-kb deletion em ...... sipidus in a Chinese pedigree.

@en

Contiguous 22.1-kb deletion em ...... sipidus in a Chinese pedigree.

@nl

prefLabel

Contiguous 22.1-kb deletion em ...... sipidus in a Chinese pedigree.

@en

Contiguous 22.1-kb deletion em ...... sipidus in a Chinese pedigree.

@nl

P1476

Contiguous 22.1-kb deletion em ...... sipidus in a Chinese pedigree.

@en

P2093

Xiangdong Kong

http://www.w3.org/2001/XMLSchema#string

Yibing Chen

http://www.w3.org/2001/XMLSchema#string

Ying Bai

http://www.w3.org/2001/XMLSchema#string

P2860

Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus

Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus

Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes

V2R mutations and nephrogenic diabetes insipidus.

Two novel types of contiguous gene deletion of the AVPR2 and ARHGAP4 genes in unrelated Japanese kindreds with nephrogenic diabetes insipidus.

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.

1,25-Dihydroxyvitamin D3 induces expression of the Wnt signaling co-regulator LRP5 via regulatory elements located significantly downstream of the gene's transcriptional start site

Regulation of bone remodeling by vasopressin explains the bone loss in hyponatremia.

Regulation of CARD8 expression by ANRIL and association of CARD8 single nucleotide polymorphism rs2043211 (p.C10X) with ischemic stroke

Identification of cis-regulatory elements for MECP2 expression.

P2888

s12882-018-0825-5

P304

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1186/S12882-018-0825-5

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P577

2018-02-02T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P6179

1100800956

http://www.w3.org/2001/XMLSchema#string

P698

29394883

http://www.w3.org/2001/XMLSchema#string

P932

5797393

http://www.w3.org/2001/XMLSchema#string