(Q34550116)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16860533%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

title

A homozygous single-base deletion in MLPH causes the dilute coat color phenotype in the domestic cat (English)

1 reference

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27 December 2019

1 reference

1 reference

3

1 reference

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27 December 2019

8

Stephen J O'Brien

1 reference

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27 December 2019

Marilyn Menotti-Raymond

9

object named as

Marilyn Menotti-Raymond

1 reference

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27 December 2019

author name string

Yasuko Ishida

1

1 reference

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27 December 2019

Victor A David

2

1 reference

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27 December 2019

Alejandro A Schäffer

4

1 reference

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27 December 2019

Beena A Neelam

5

1 reference

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27 December 2019

Melody E Roelke

6

1 reference

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27 December 2019

Steven S Hannah

7

1 reference

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27 December 2019

publication date

24 July 2006

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27 December 2019

1 reference

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27 December 2019

volume

88

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27 December 2019

page(s)

698-705

1 reference

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27 December 2019

issue

6

1 reference

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Genetic disorders of pigmentation

27 December 2019

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7 January 2021

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Tyrosinase and tyrosinase related protein 1 alleles specify domestic cat coat color phenotypes of the albino and brown loci

7 January 2021

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Morphologic basis of inherited coat-color dilutions of cats.

7 January 2021

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7 January 2021

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Melanosome transfer to and translocation in the keratinocyte

7 January 2021

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Visualization of melanosome dynamics within wild-type and dilute melanocytes suggests a paradigm for myosin V function In vivo

7 January 2021

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Identification of an organelle receptor for myosin-Va

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7 January 2021

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The actin-binding domain of Slac2-a/melanophilin is required for melanosome distribution in melanocytes

7 January 2021

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Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport

7 January 2021

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Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions

7 January 2021

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Melanophilin, the product of the leaden locus, is required for targeting of myosin-Va to melanosomes

7 January 2021

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Activation of myosin Va function by melanophilin, a specific docking partner of myosin Va

7 January 2021

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A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport

7 January 2021

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A mutation in Rab27a causes the vesicle transport defects observed in ashen mice

7 January 2021

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Mutations in Mlph, encoding a member of the Rab effector family, cause the melanosome transport defects observed in leaden mice

7 January 2021

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Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome

7 January 2021

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Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients

7 January 2021

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Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene

7 January 2021

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Two genes are responsible for Griscelli syndrome at the same 15q21 locus.

7 January 2021

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Partial albinism with immunodeficiency (Griscelli syndrome)

7 January 2021

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Identification of a novel myosin-Va mutation in an ataxic mutant rat, dilute-opisthotonus

7 January 2021

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Polymorphisms within the canine MLPH gene are associated with dilute coat color in dogs

7 January 2021

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7 January 2021

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7 January 2021

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Genomic variants in exons and introns: identifying the splicing spoilers

7 January 2021

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7 January 2021

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