Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28 (Q24299499)

GOA release 2020-03-11

ribosome biogenesis

1 reference

GOA release 2020-03-11

Diamond-Blackfan anemia

1 reference

Jessica Xiao-Ling Chong

6

Jessica Xiao-Ling

Chong

1 reference

19 October 2023

1

Karen W Gripp

Karen W

Gripp

1 reference

19 October 2023

Cynthia Curry

2

Cynthia

Curry

1 reference

19 October 2023

Ann Haskins Olney

3

Ann Haskins

Olney

1 reference

19 October 2023

Claudio Sandoval

4

Claudio

Sandoval

1 reference

19 October 2023

Jamie Fisher

5

Jamie

Fisher

1 reference

19 October 2023

Lisa Pilchman

8

Lisa

Pilchman

1 reference

19 October 2023

Rebecca Sahraoui

9

Rebecca

Sahraoui

1 reference

19 October 2023

Deborah L Stabley

10

Deborah L

Stabley

1 reference

19 October 2023

Katia Sol-Church

11

Katia

Sol-Church

1 reference

American Journal of Medical Genetics Part A

19 October 2023

language of work or name

English

0 references

publication date

September 2014

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published in

1 reference

An integrated map of genetic variation from 1,092 human genomes

volume

164A

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issue

9

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page(s)

2240-9

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149220

NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149220

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149220

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149220

The role of human ribosomal proteins in the maturation of rRNA and ribosome production

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149220

The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149220

A method and server for predicting damaging missense mutations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149220

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149220

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149220

Distribution and intensity of constraint in mammalian genomic sequence

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149220

Genetics. Mysterious ribosomopathies

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149220

Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149220

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149220

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149220

Ribosomopathies: human disorders of ribosome dysfunction

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149220

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149220

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149220

Curvilinear mandibular distraction in a patient with mandibulofacial dysostosis associated with Diamond-Blackfan anemia

27 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.36633

Cleft palate, bilateral external auditory canal atresia, and other midline defects associated with Diamond-Blackfan anemia: case report.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.36633

Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149220

Diamond-Blackfan anemia associated with Treacher-Collins syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149220

Exploring the genetic origins of Treacher Collins syndrome

29 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/24942156

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.36633

0 references

Fatcat ID

release_tbdvenfepff2jcejghpgvuywca

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PMC publication ID

4149220

0 references