(Q24336343)

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Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor

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Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor (English)

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FYVE, RhoGEF and PH domain containing 1

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GOA release 2020-03-11

animal organ morphogenesis

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GOA release 2020-03-11

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author name string

N G Pasteris

1

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A Cadle

2

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L J Logie

3

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M E Porteous

4

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C E Schwartz

5

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R E Stevenson

6

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T W Glover

7

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R S Wilroy

8

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J L Gorski

9

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language of work or name

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publication date

18 November 1994

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79

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4

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669-78

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Autosomal dominant inheritance of the Aarskog syndrome

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Aarskog syndrome: full male and female expression associated with an X-autosome translocation

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Aarskog syndrome: the changing phenotype with age.

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Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region of the X chromosome

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Development of cell polarity in budding yeast

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The small GTP-binding protein rho regulates the assembly of focal adhesions and actin stress fibers in response to growth factors

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The small GTP-binding protein rac regulates growth factor-induced membrane ruffling

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Epidermal growth factor regulates p21ras through the formation of a complex of receptor, Grb2 adapter protein, and Sos nucleotide exchange factor

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Identification and characterization of the tuberous sclerosis gene on chromosome 16

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Lipid second messengers

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Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

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Construction and characterization of a yeast artificial chromosome library for Xpter-Xq27.3: a systematic determination of cocloning rate and X-chromosome representation

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The PH domain: a common piece in the structural patchwork of signalling proteins

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A familial syndrome of short stature associated with facial dysplasia and genital anomalies

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Addditional features of the Aarskog syndrome

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A radiation hybrid map of the proximal short arm of the human X chromosome spanning incontinentia pigmenti 1 (IP1) translocation breakpoints

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The gene for Aarskog syndrome is located between DXS255 and DXS566 (Xp11.2-Xq13).

1 reference

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'Formins': proteins deduced from the alternative transcripts of the limb deformity gene.

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Sequence homology shared by neurofibromatosis type-1 gene and IRA-1 and IRA-2 negative regulators of the RAS cyclic AMP pathway.

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Activation of the NADPH oxidase involves the small GTP-binding protein p21rac1

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Catalysis of guanine nucleotide exchange on the CDC42Hs protein by the dbl oncogene product

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Molecular cloning of cDNAs encoding a guanine-nucleotide-releasing factor for Ras p21

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Rac and Rho in tune

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Oncogene ect2 is related to regulators of small GTP-binding proteins

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Association of Sos Ras exchange protein with Grb2 is implicated in tyrosine kinase signal transduction and transformation

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The SH2 and SH3 domains of mammalian Grb2 couple the EGF receptor to the Ras activator mSos1

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Guanine-nucleotide-releasing factor hSos1 binds to Grb2 and links receptor tyrosine kinases to Ras signalling

1 reference

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Proteins regulating Ras and its relatives

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Issues in searching molecular sequence databases

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Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323

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An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs

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Optimal conditions for directly sequencing double-stranded PCR products with sequenase

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YAC subclone contig assembly by serial interspersed repetitive sequence (IRS)-PCR product hybridizations

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Aarskog syndrome: New oral-facial findings

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The Aarskog syndrome in a large family, suggestive for autosomal dominant inheritance

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Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase

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Identification of a ten-amino acid proline-rich SH3 binding site

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Tyrosine kinase-stimulated guanine nucleotide exchange activity of Vav in T cell activation

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A somatic cell hybrid panel to facilitate identification of DNA sequences in the vicinity of the incontinentia pigmenti locus (IP1)

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