(Q37219071)

English

The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation.

scientific article published on 23 July 2002

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scholarly article

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Europe PubMed Central

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11 November 2019

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The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12145744%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference

based on heuristic

inferred from title

Duchenne muscular dystrophy

1 reference

based on heuristic

inferred from title

7

1 reference

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11 November 2019

Kazuhiro Yamakawa

8

1 reference

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11 November 2019

author name string

Fumiko Saito-Ohara

1

1 reference

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11 November 2019

Yoji Fukuda

2

1 reference

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11 November 2019

Masahiro Ito

3

1 reference

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11 November 2019

Kishan Lal Agarwala

4

1 reference

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11 November 2019

Masaharu Hayashi

5

1 reference

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11 November 2019

Masafumi Matsuo

6

1 reference

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11 November 2019

Yusuke Nakamura

9

1 reference

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11 November 2019

Johji Inazawa

10

1 reference

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11 November 2019

language of work or name

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publication date

23 July 2002

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11 November 2019

American Journal of Human Genetics

1 reference

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11 November 2019

71

1 reference

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11 November 2019

3

1 reference

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11 November 2019

637-645

1 reference

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11 November 2019

Intellectual Impairment in Muscular Dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379199

6 September 2017

Monogenic causes of X-linked mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379199

6 September 2017

In search of the MRX genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379199

6 September 2017

Splitting and lumping in the nosology of XLMR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379199

6 September 2017

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379199

6 September 2017

Clinical mitochondrial genetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379199

6 September 2017

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379199

6 September 2017

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379199

6 September 2017

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

1 reference

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6 September 2017

Human p21-activated kinase (Pak1) regulates actin organization in mammalian cells

1 reference

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6 September 2017

The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor

1 reference

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6 September 2017

Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379199

6 September 2017

A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379199

6 September 2017

High-resolution cytogenetic mapping of 342 new cosmid markers including 43 RFLP markers on human chromosome 17 by fluorescence in situ hybridization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379199

6 September 2017

Human AQP2 and MIP genes, two members of the MIP family, map within chromosome band 12q13 on the basis of two-color FISH

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379199

6 September 2017

Bovine mitochondrial ribosomes possess a high affinity binding site for guanine nucleotides.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379199

6 September 2017

Cdc42 and PAK-mediated signaling leads to Jun kinase and p38 mitogen-activated protein kinase activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379199

28 September 2017

Connatal Pelizaeus-Merzbacher Disease with congenital stridor in two maternal cousins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379199

26 June 2018

Identification of cIAP1 as a candidate target gene within an amplicon at 11q22 in esophageal squamous cell carcinomas.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379199

3 September 2018

Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379199

3 September 2018

Deletion status and intellectual impairment in Duchenne muscular dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379199

3 September 2018

Nonspecific X-linked mental retardation II: the frequency in British Columbia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379199

3 September 2018

[Clinical and pathological studies on intellectual impairment in Duchenne muscular dystrophy, with special reference to patients with severe intellectual impairment]

1 reference

https://pubmed.ncbi.nlm.nih.gov/12145744

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clonal origin of Philadelphia chromosome negative cells with trisomy 8 appearing during the course of alpha-interferon therapy for Ph positive chronic myelocytic leukemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/12145744

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

YAC/STS map of 15Mb of Xp21.3-p11.3, at 100kb resolution, with refined comparisons of genetic distances and DMD structure

1 reference

https://pubmed.ncbi.nlm.nih.gov/12145744

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/12145744

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intellectual function in childhood progressive muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12145744

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Overlay blot identification of GTP-binding proteins in mitochondria from human placenta

1 reference

https://pubmed.ncbi.nlm.nih.gov/12145744

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial characterization of mitochondrial G proteins in adrenal cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/12145744

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations

1 reference

https://pubmed.ncbi.nlm.nih.gov/12145744

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complete skipping of exon 66 due to novel mutations of the dystrophin gene was identified in two Japanese families of Duchenne muscular dystrophy with severe mental retardation

1 reference

https://pubmed.ncbi.nlm.nih.gov/12145744

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12145744

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

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11 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12145744%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12145744%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

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