Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans. (Q33617141)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28346228%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

title

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans (English)

1 reference

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14 March 2020

0 references

4

1 reference

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14 March 2020

Harald Stachelscheid

6

1 reference

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14 March 2020

Jerry K Wales

13

1 reference

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14 March 2020

Dale Moulding

23

1 reference

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14 March 2020

John C. Achermann

27

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14 March 2020

16

Brigitte Strahm

1 reference

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14 March 2020

14

Paolo Ghirri

1 reference

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14 March 2020

author name string

Federica Buonocore

1

1 reference

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14 March 2020

Peter Kühnen

2

1 reference

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14 March 2020

Jenifer P Suntharalingham

3

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14 March 2020

Martin Digweed

5

1 reference

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14 March 2020

Noushafarin Khajavi

7

1 reference

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14 March 2020

Mohammed Didi

8

1 reference

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14 March 2020

Angela F Brady

9

1 reference

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14 March 2020

Oliver Blankenstein

10

1 reference

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14 March 2020

Annie M Procter

11

1 reference

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14 March 2020

Paul Dimitri

12

1 reference

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14 March 2020

Dieter Knöbl

15

1 reference

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14 March 2020

Miriam Erlacher

17

1 reference

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14 March 2020

Marcin W Wlodarski

18

1 reference

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14 March 2020

Wei Chen

19

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14 March 2020

George K Kokai

20

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14 March 2020

Glenn Anderson

21

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14 March 2020

Deborah Morrogh

22

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14 March 2020

Shane A McKee

24

1 reference

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14 March 2020

Charlotte M Niemeyer

25

1 reference

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14 March 2020

Annette Grüters

26

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14 March 2020

language of work or name

English

0 references

publication date

27 March 2017

1 reference

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Journal of Clinical Investigation

14 March 2020

published in

1 reference

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14 March 2020

volume

127

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14 March 2020

page(s)

1700-1713

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14 March 2020

issue

5

1 reference

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describes a project that uses

14 March 2020

0 references

0 references

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5409795/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

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Loading of PAX3 to Mitotic Chromosomes Is Mediated by Arginine Methylation and Associated with Waardenburg Syndrome

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30 October 2018

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12 December 2020

based on heuristic

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Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7

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21 June 2018

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Mouse Samd9l is not a functional paralogue of the human SAMD9, the gene mutated in normophosphataemic familial tumoral calcinosis

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21 June 2018

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21 June 2018

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21 June 2018

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The Samd9L gene: transcriptional regulation and tissue-specific expression in mouse development

21 June 2018

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21 June 2018

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Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis

21 June 2018

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21 June 2018

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21 June 2018

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Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein

21 June 2018

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Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse

21 June 2018

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Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.

21 June 2018

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DAX-1, an unusual orphan receptor at the crossroads of steroidogenic function and sexual differentiation

21 June 2018

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Haploinsufficiency of steroidogenic factor-1 in mice disrupts adrenal development leading to an impaired stress response.

21 June 2018

1 reference

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21 June 2018

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21 June 2018

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30 October 2018

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Myelodysplastic syndrome with monosomy 7 in a patient with XY gonadal dysgenesis (incomplete testicular feminization)

30 October 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/28346228

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI91913

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28346228%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28346228%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

1 reference