Two-exon skipping within MLPH is associated with coat color dilution in rabbits (Q27335075)

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Marion Gähle

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Claudia Dierks

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Ricarda Stelter

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Jonathan Gerber

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Ralph Brehm

Creative Commons Attribution 4.0 International

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language of work or name

English

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publication date

2013

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e84525

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start time

20 December 2013

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April 2022 Public Data File from Crossref

copyrighted

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cites work

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

21 March 2017

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Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

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

21 March 2017

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Identification of an organelle receptor for myosin-Va

21 March 2017

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Alternative pre-mRNA splicing: the logic of combinatorial control

21 March 2017

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Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

7 April 2017

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Splicing of messenger RNA precursors

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The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

7 April 2017

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The lavender plumage colour in Japanese quail is associated with a complex mutation in the region of MLPH that is related to differences in growth, feed consumption and body temperature

7 April 2017

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Whole-genome SNP association in the horse: identification of a deletion in myosin Va responsible for Lavender Foal Syndrome

29 September 2017

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Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity.

29 September 2017

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Griscelli syndrome: a model system to study vesicular trafficking

29 September 2017

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A single point-mutation within the melanophilin gene causes the lavender plumage colour dilution phenotype in the chicken

29 September 2017

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A noncoding melanophilin gene (MLPH) SNP at the splice donor of exon 1 represents a candidate causal mutation for coat color dilution in dogs

29 September 2017

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A Quantitative Histological Study of the Pigment Found in the Coat Color Mutants of the House Mouse. II. Estimates of the Total Volume of Pigment

29 September 2017

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A coiled-coil domain of melanophilin is essential for Myosin Va recruitment and melanosome transport in melanocytes.

29 September 2017

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

29 September 2017

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

29 September 2017

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A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition.

29 September 2017

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

29 September 2017

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

29 September 2017

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Unusual patterns of exon skipping in Bruton tyrosine kinase are associated with mutations involving the intron 17 3' splice site.

29 September 2017

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Initial splice-site recognition and pairing during pre-mRNA splicing

29 September 2017

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The effects of embedding in water-soluble plastics on the final dimensions of liver sections

29 September 2017

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A novel beta thalassemia gene with a single base mutation in the conserved polypyrimidine sequence at the 3' end of IVS 2

29 September 2017

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Color dilution alopecia in a blue Doberman pinscher crossbreed

29 September 2017

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Establishment of a new mismatch PCR-RFLP technique for detection of G10430A common mutation present in moderate to mild haemophilia B patients belonging to Gujarati community from the western part of India

2 June 2018

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Morphologic basis of inherited coat-color dilutions of cats

2 June 2018

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Plumage colour mutations and melanins in the feathers of the Japanese quail: a first comparison.

21 January 2018

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Mapping of the silver gene in mink and its association with the dilution gene in dog.

21 January 2018

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Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity

21 January 2018

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Molecular basis of two-exon skipping (exons 12 and 13) by c.1248+5g>a in OXCT1 gene: study on intermediates of OXCT1 transcripts in fibroblasts

21 January 2018

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Color-dilution alopecia in dogs

21 January 2018

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A mutational analysis of the polypyrimidine tract of introns. Effects of sequence differences in pyrimidine tracts on splicing.

27 November 2018

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Changes in Melanin Granules in the Fox Due to Coat Color Mutations

27 November 2018

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12 December 2020

Two-exon skipping due to a point mutation in p67-phox--deficient chronic granulomatous disease

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12 December 2020

A new, less toxic polymerization system for the embedding of soft tissues in glycol methacrylate and subsequent preparing of serial sections

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12 December 2020

Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations

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12 December 2020

Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene

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12 December 2020

Pathological exon skipping in an HNPCC proband with MLH1 splice acceptor site mutation.

1 reference

12 December 2020

Exon skipping due to a mutation in a donor splice site in the WT-1 gene is associated with Wilms' tumor and severe genital malformations

1 reference

12 December 2020

The organization of 3' splice-site sequences in mammalian introns

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12 December 2020