(Q28480870)

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Positive selection for new disease mutations in the human germline: evidence from the heritable cancer syndrome multiple endocrine neoplasia type 2B

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Positive selection for new disease mutations in the human germline: evidence from the heritable cancer syndrome multiple endocrine neoplasia type 2B (English)

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multiple endocrine neoplasia type 2B

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based on heuristic

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author name string

Soo-Kyung Choi

1

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Song-Ro Yoon

2

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Peter Calabrese

3

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Norman Arnheim

4

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publication date

2012

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8

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2

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e1002420

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copyright license

Creative Commons Attribution 4.0 International

16 February 2012

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April 2022 Public Data File from Crossref

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Cell signaling by receptor tyrosine kinases

1 reference

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The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effect

1 reference

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1 reference

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1 reference

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RET tyrosine kinase signaling in development and cancer

1 reference

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1 reference

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1 reference

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1 reference

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Estimate of the mutation rate per nucleotide in humans

1 reference

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Parent-of-origin effects in multiple endocrine neoplasia type 2B

1 reference

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Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280958

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1 reference

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Differential phosphoproteomics of fibroblast growth factor signaling: identification of Src family kinase-mediated phosphorylation events

1 reference

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1 reference

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Update multiple endocrine neoplasia type 2.

1 reference

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1 reference

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1 reference

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A germ-line-selective advantage rather than an increased mutation rate can explain some unexpectedly common human disease mutations

1 reference

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Regulation of spermatogonial stem cell self-renewal in mammals

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1 reference

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1 reference

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The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect

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Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours

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1 reference

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1 reference

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1 reference

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1 reference

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1 reference

https://pubmed.ncbi.nlm.nih.gov/22359510

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based on heuristic

inferred from PubMed ID database lookup

Mouse germ line stem cells undergo rapid and stochastic turnover

1 reference

https://pubmed.ncbi.nlm.nih.gov/22359510

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/22359510

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based on heuristic

inferred from PubMed ID database lookup

Spermatogenesis and aging in the human

1 reference

https://pubmed.ncbi.nlm.nih.gov/22359510

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

https://pubmed.ncbi.nlm.nih.gov/22359510

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based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PGEN.1002420

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Consolidated OpenCitations Corpus – April 2017

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OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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