Analysis of gene mutations in children with cholestasis of undefined etiology (Q42728589)

5 November 2017

Analysis of gene mutations in children with cholestasis of undefined etiology (English)

1 reference

5 November 2017

1

Ursula Matte

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5 November 2017

8

Jorge A Bezerra

1 reference

5 November 2017

Reena Mourya

2

1 reference

5 November 2017

Alexander Miethke

3

1 reference

5 November 2017

Cong Liu

4

1 reference

5 November 2017

Gregory Kauffmann

5

1 reference

5 November 2017

Katie Moyer

6

1 reference

5 November 2017

Kejian Zhang

7

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5 November 2017

language of work or name

English

0 references

publication date

1 October 2010

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Journal of Pediatric Gastroenterology and Nutrition

5 November 2017

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5 November 2017

51

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5 November 2017

4

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5 November 2017

488-493

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New molecular insights into the mechanisms of cholestasis.

5 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090691

Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090691

Intrahepatic cholestasis of pregnancy: the severe form is associated with common variants of the hepatobiliary phospholipid transporter ABCB4 gene

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090691

Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090691

Predicting the effects of amino acid substitutions on protein function

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090691

Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11).

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090691

Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090691

Whatever happened to "neonatal hepatitis"?

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090691

Nasobiliary drainage induces long-lasting remission in benign recurrent intrahepatic cholestasis

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090691

ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090691

Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090691

Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090691

Characterization of mutations in ATP8B1 associated with hereditary cholestasis

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090691

SIFT: Predicting amino acid changes that affect protein function

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090691

MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090691

Prediction of deleterious human alleles

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090691

Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090691

Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090691

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090691

A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090691

Amino acid difference formula to help explain protein evolution

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090691

ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090691

Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090691

Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090691

ABCB4 gene mutation-associated cholelithiasis in adults

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090691

Bile Salt Export Pump Gene Mutations in Two Japanese Patients With Progressive Familial Intrahepatic Cholestasis

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090691

A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090691

Mutations in bile salt export pump (ABCB11) in two children with progressive familial intrahepatic cholestasis and cholangiocarcinoma

16 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20683201

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1097/MPG.0B013E3181DFFE8F

1 reference

5 November 2017

1 reference

5 November 2017

1 reference