(Q24535880)

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Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features

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Europe PubMed Central

PubMed publication ID

4 July 2017

Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features (English)

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

developmental disorder

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Yamada K

1

author given names

K

author last names

Yamada

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Yamada Y

2

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Y

author last names

Yamada

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Europe PubMed Central

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4 July 2017

Nomura N

3

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N

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Nomura

1 reference

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4 July 2017

Miura K

4

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K

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Miura

1 reference

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4 July 2017

Wakako R

5

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R

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Wakako

1 reference

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4 July 2017

Hayakawa C

6

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C

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Hayakawa

1 reference

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4 July 2017

Matsumoto A

7

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A

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Matsumoto

1 reference

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4 July 2017

Kumagai T

8

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T

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Kumagai

1 reference

Europe PubMed Central

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4 July 2017

Yoshimura I

9

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I

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Yoshimura

1 reference

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4 July 2017

Miyazaki S

10

author given names

S

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Miyazaki

1 reference

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4 July 2017

Kato K

11

author given names

K

author last names

Kato

1 reference

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4 July 2017

Sonta S

12

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S

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Sonta

1 reference

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4 July 2017

Ono H

13

author given names

H

author last names

Ono

1 reference

Europe PubMed Central

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4 July 2017

Yamanaka T

14

author given names

T

author last names

Yamanaka

1 reference

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4 July 2017

Nagaya M

15

author given names

M

author last names

Nagaya

1 reference

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4 July 2017

Wakamatsu N

16

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N

author last names

Wakamatsu

1 reference

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4 July 2017

language of work or name

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publication date

2 October 2001

1 reference

Europe PubMed Central

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4 July 2017

American Journal of Human Genetics

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Europe PubMed Central

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4 July 2017

69

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Europe PubMed Central

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4 July 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

1178-1185

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235530

24 March 2017

A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235530

24 March 2017

Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235530

24 March 2017

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235530

24 March 2017

Mutations of the RET proto-oncogene in Hirschsprung's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235530

24 March 2017

A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235530

24 March 2017

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235530

24 March 2017

Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235530

24 March 2017

Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235530

24 March 2017

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235530

24 March 2017

The CpG dinucleotide and human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235530

24 March 2017

The two-handed E box binding zinc finger protein SIP1 downregulates E-cadherin and induces invasion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235530

7 April 2017

Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235530

27 September 2017

A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235530

27 September 2017

Differential expression and function of members of the zfh-1 family of zinc finger/homeodomain repressors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235530

27 September 2017

New mode of DNA binding of multi-zinc finger transcription factors: deltaEF1 family members bind with two hands to two target sites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235530

27 September 2017

SIP1, a novel zinc finger/homeodomain repressor, interacts with Smad proteins and binds to 5'-CACCT sequences in candidate target genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235530

27 September 2017

Goldberg-Shprintzen syndrome: report of a new family and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235530

27 September 2017

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235530

27 September 2017

Phenotypic variability of del(2) (q22-q23): report of a case with a review of the literature.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235530

27 September 2017

Hirschsprung disease, unusual face, mental retardation, epilepsy, and congenital heart disease: Goldberg-Shprintzen syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235530

27 September 2017

Hirschsprung megacolon and cleft palate in two sibs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235530

27 September 2017

Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235530

27 September 2017

The syndrome of Hirschsprung disease, microcephaly, unusual face, and mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235530

27 September 2017

Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235530

27 September 2017

Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235530

30 May 2018

Familial patterns of central nervous system dysfunction, growth deficiency, facial clefts and congenital megacolon: a specific disorder?

1 reference

https://pubmed.ncbi.nlm.nih.gov/11592033

12 December 2020

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Europe PubMed Central

PubMed publication ID

4 July 2017

release_usx4bri7ffdnrafi5a4qck4eky

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Europe PubMed Central

PubMed publication ID

4 July 2017

PubMed publication ID

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Europe PubMed Central

PubMed publication ID

4 July 2017

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