Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1) (Q28146138)

ORCID Public Data File 2021

author name string

T Sahoo

1

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E W Johnson

2

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J W Thomas

3

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P M Kuehl

4

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T L Jones

5

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C G Dokken

6

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J W Touchman

7

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C J Gallione

8

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S Q Lee-Lin

9

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B Kosofsky

10

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J H Kurth

11

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D N Louis

12

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G Mettler

13

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L Morrison

14

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A Gil-Nagel

15

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S S Rich

16

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J M Zabramski

17

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M S Boguski

18

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D A Marchuk

Cerebral cavernous malformations. Incidence and familial occurrence

20

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language of work or name

English

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publication date

November 1999

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published in

Human Molecular Genetics

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volume

8

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issue

12

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page(s)

2325-33

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cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

Familial cerebral cavernous angioma: clinical analysis of a family and phenotypic classification

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

The natural history of cerebral cavernous malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

Intracranial cavernous malformations: lesion behavior and management strategies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

Hereditary cerebral cavernous angiomas: clinical and genetic features in 57 French families. Société Française de Neurochirurgie.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

A locus for cerebral cavernous malformations maps to chromosome 7q in two families

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

Linkage of the locus for cerebral cavernous hemangiomas to human chromosome 7q in four families of Mexican-American descent.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

Association of Krev-1/rap1a with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

The ankyrin repeat: a diversity of interactions on a common structural framework

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

ERM proteins: head-to-tail regulation of actin-plasma membrane interaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

A physical map of human chromosome 7: an integrated YAC contig map with average STS spacing of 79 kb.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

Inhibition of GTPase activating protein stimulation of Ras-p21 GTPase by the Krev-1 gene product

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

Identification of small clusters of divergent amino acids that mediate the opposing effects of ras and Krev-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

Identification of amino acid residues required for Ras p21 target activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

Differential interaction of the ras family GTP-binding proteins H-Ras, Rap1A, and R-Ras with the putative effector molecules Raf kinase and Ral-guanine nucleotide exchange factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

Coassociation of Rap1A and Ha-Ras with Raf-1 N-terminal region interferes with ras-dependent activation of Raf-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

RSR1, a ras-like gene homologous to Krev-1 (smg21A/rap1A): role in the development of cell polarity and interactions with the Ras pathway in Saccharomyces cerevisiae

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

A new bacteriophage P1-derived vector for the propagation of large human DNA fragments

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

Construction of a high-resolution physical map of the approximate 1-Mb region of human chromosome 7q31.1-q31.2 harboring a putative tumor suppressor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

High throughput fingerprint analysis of large-insert clones

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

Prediction of complete gene structures in human genomic DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

Identification of protein coding regions in the human genome by quadratic discriminant analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

SMART, a simple modular architecture research tool: identification of signaling domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325

SMART: identification and annotation of domains from signalling and extracellular protein sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2325