Genetics of pancreatitis: an update for clinicians and genetic counselors (Q37982298)

4 November 2017

Genetics of pancreatitis: an update for clinicians and genetic counselors (English)

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4 November 2017

2

David C Whitcomb

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4 November 2017

Sheila Solomon

1

1 reference

4 November 2017

1 April 2012

1 reference

Current gastroenterology reports

4 November 2017

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4 November 2017

14

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4 November 2017

2

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4 November 2017

112-117

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https://scigraph.springernature.com/pub.10.1007/s11894-012-0240-1

4 November 2017

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cites work

Genetics of pancreatitis

1 reference

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

23 June 2018

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Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654383

Molecular and cellular mechanisms of pancreatic injury

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654383

Genetic aspects of pancreatitis

23 June 2018

1 reference

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A clinical and radiologic review of uncommon types and causes of pancreatitis

23 June 2018

1 reference

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Reducing extracellular pH sensitizes the acinar cell to secretagogue-induced pancreatitis responses in rats

23 June 2018

1 reference

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Chronic pancreatitis: genetics and pathogenesis

23 June 2018

1 reference

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Multicenter approach to recurrent acute and chronic pancreatitis in the United States: the North American Pancreatitis Study 2 (NAPS2).

23 June 2018

1 reference

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Pathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotype using meta-analysis

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654383

Chronic pancreatitis: challenges and advances in pathogenesis, genetics, diagnosis, and therapy.

23 June 2018

1 reference

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A 93 year old man with the PRSS1 R122H mutation, low SPINK1 expression, and no pancreatitis: insights into phenotypic non-penetrance.

23 June 2018

1 reference

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Clinical and genetic characteristics of hereditary pancreatitis in Europe

23 June 2018

1 reference

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Emerging concepts for the mechanism of alcoholic pancreatitis from experimental models

23 June 2018

1 reference

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Genetic testing for hereditary pancreatitis: guidelines for indications, counselling, consent and privacy issues.

23 June 2018

1 reference

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The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the disease

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654383

Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations

23 June 2018

1 reference

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Motivations and concerns of patients with access to genetic testing for hereditary pancreatitis

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654383

Chronic pancreatitis: diagnosis, classification, and new genetic developments

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654383

SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654383

Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654383

Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654383

Protease-activated receptor 2 exerts local protection and mediates some systemic complications in acute pancreatitis

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654383

Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654383

Mutations in the calcium-sensing receptor: A new genetic risk factor for chronic pancreatitis?

3 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22314809

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

SPINK1 N34S is strongly associated with recurrent acute pancreatitis but is not a risk factor for the first or sentinel acute pancreatitis event

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22314809

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S11894-012-0240-1

1 reference

4 November 2017

1 reference

4 November 2017

1 reference

PMCID

5654383