(Q24612060)

51

0 references

Sarah Edkins

9

0 references

Jozef Gécz

57

0 references

Martin Bobrow

50

0 references

Richard Wooster

49

Richard Wooster

0 references

Sarah O'Meara

11

Sarah O'Meara

0 references

Keiran Raine

31

Keiran Raine

0 references

Sara Widaa

23

Sara Widaa

0 references

Tatiana Mironenko

19

Tatiana Mironenko

0 references

Lucianne Vandeleur

6

Lucianne Vandeleur

0 references

Syd Barthorpe

13

Syd Barthorpe

0 references

Cheryl Shoubridge

8

Cheryl Shoubridge

0 references

Gemma Buck

14

Gemma Buck

0 references

Jennifer Varian

21

Jennifer Varian

0 references

Andy Jenkinson

Andrew Jenkinson

29

0 references

Lam S Nguyen

Lam S Nguyen

3

0 references

David Richardson

David Richardson

28

0 references

P. Andrew Futreal

54

P Andrew Futreal

0 references

Doug A Brooks

Doug Brooks

38

0 references

Andrew Menzies

27

Andrew Menzies

0 references

Michael Stratton

56

Michael R Stratton

0 references

David R. Jones

18

David Jones

0 references

Patrick S. Tarpey

1

Patrick S Tarpey

0 references

Sofie West

22

Sofie West

0 references

Richard J Simensen

45

Richard J Simensen

0 references

Kelly Halliday

16

Kelly Halliday

0 references

Josep Parnau

34

Josep Parnau

0 references

Jayson Rodriguez

4

Jayson Rodriguez

0 references

Raffaella Smith

7

Raffaella Smith

0 references

Calli Tofts

12

Calli Tofts

0 references

author name string

F Lucy Raymond

2

0 references

Anna Hackett

5

0 references

Claire Stevens

10

0 references

Jennifer Cole

15

0 references

Katy Hills

17

0 references

Janet Perry

20

0 references

John Teague

24

0 references

Ed Dicks

25

0 references

Adam Butler

26

0 references

Rebecca Shepherd

30

0 references

Jenny Moon

32

0 references

Yin Luo

33

0 references

Shambhu S Bhat

35

0 references

Alison Gardner

36

0 references

Mark Corbett

37

0 references

Paul Thomas

39

0 references

Emma Parkinson-Lawrence

40

0 references

Mary E Porteous

41

0 references

John P Warner

42

0 references

Tracy Sanderson

43

0 references

Pauline Pearson

44

0 references

Cindy Skinner

46

0 references

George Hoganson

47

0 references

Duane Superneau

48

0 references

Roger E Stevenson

52

0 references

Charles E Schwartz

53

0 references

Anand K Srivastava

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus

55

0 references

language of work or name

English

0 references

publication date

September 2007

0 references

published in

Nature Genetics

0 references

volume

39

0 references

page(s)

1127-33

0 references

issue

9

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872770

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872770

Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872770

Functions of hUpf3a and hUpf3b in nonsense-mediated mRNA decay and translation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872770

Exon-junction complex components specify distinct routes of nonsense-mediated mRNA decay with differential cofactor requirements

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872770

Y14 and hUpf3b form an NMD-activating complex

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872770

Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872770

Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872770

Identification and characterization of human orthologues to Saccharomyces cerevisiae Upf2 protein and Upf3 protein (Caenorhabditis elegans SMG-4)

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872770

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872770

The structural basis for the interaction between nonsense-mediated mRNA decay factors UPF2 and UPF3

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872770

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872770

An alternative branch of the nonsense-mediated decay pathway

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872770

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia 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=2872770

The genetics of mental retardation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872770

Messenger RNA surveillance: neutralizing natural nonsense

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872770

Nonsense-mediated mRNA decay: molecular insights and mechanistic variations across species

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872770

Unspliced Rous sarcoma virus genomic RNAs are translated and subjected to nonsense-mediated mRNA decay before packaging

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872770

Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872770

Genes for cognitive function: developments on the X.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872770

Lujan-Fryns syndrome in the differential diagnosis of schizophrenia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872770

A form of X-linked mental retardation with marfanoid habitus

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872770

Studies of malformation syndromes of man 33: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872770

X-linked mental retardation with marfanoid habitus

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872770

FG syndrome: report of three new families with linkage to Xq12-q22.1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872770

Studies of malformation syndromes of man XXXIII: The FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation

30 May 2018

1 reference

The FG syndrome: report of a large Italian series.

21 January 2018

1 reference

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

21 January 2018

1 reference

mRNA surveillance of expressed pseudogenes in C. elegans.

21 January 2018

1 reference

A routine method for the establishment of permanent growing lymphoblastoid cell lines

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17704778

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17704778

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Lujan-Fryns syndrome in the differential diagnosis of schizophrenia

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG2100

1 reference

Dimensions Publication ID

1400776

1011339493

0 references

1400776

1 reference

1 reference

1 reference