Literature DB >> 9256409

Pigment, platelets, and Hermansky-Pudlak in human and mouse.

R P Erickson1.   

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Year:  1997        PMID: 9256409      PMCID: PMC33759          DOI: 10.1073/pnas.94.17.8924

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN: 0027-8424            Impact factor:   11.205


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  28 in total

1.  Congenital gigantism of peroxidase granules; the first case ever reported of qualitative abnormity of peroxidase.

Authors:  O HIGASHI
Journal:  Tohoku J Exp Med       Date:  1954-02-25       Impact factor: 1.848

Review 2.  A new dimension for the human genome project: towards comprehensive expression maps.

Authors:  T Strachan; M Abitbol; D Davidson; J S Beckmann
Journal:  Nat Genet       Date:  1997-06       Impact factor: 38.330

3.  The platelet defect associated with albumism.

Authors:  R M Hardisty; D C Mills; K Ketsa-Ard
Journal:  Br J Haematol       Date:  1972-12       Impact factor: 6.998

4.  The Chediak-Higashi syndrome: studies in four patients and a review of the literature.

Authors:  R S Blume; S M Wolff
Journal:  Medicine (Baltimore)       Date:  1972-07       Impact factor: 1.889

5.  Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.

Authors:  D L Nagle; M A Karim; E A Woolf; L Holmgren; P Bork; D J Misumi; S H McGrail; B J Dussault; C M Perou; R E Boissy; G M Duyk; R A Spritz; K J Moore
Journal:  Nat Genet       Date:  1996-11       Impact factor: 38.330

6.  The Chediak-Higashi syndrome of cats.

Authors:  J W Kramer; W C Davis; D J Prieur
Journal:  Lab Invest       Date:  1977-05       Impact factor: 5.662

7.  Pale ear and light ear in the house mouse. Mimic mutations in linkage groups XII and XVII.

Authors:  P W Lane; E L Green
Journal:  J Hered       Date:  1967 Jan-Feb       Impact factor: 2.645

8.  Lysosomal dysfunctions associated with mutations at mouse pigment genes.

Authors:  E K Novak; R T Swank
Journal:  Genetics       Date:  1979-05       Impact factor: 4.562

9.  A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2.

Authors:  S C Wildenberg; W S Oetting; C Almodóvar; M Krumwiede; J G White; R A King
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

10.  Myogenin's functions do not overlap with those of MyoD or Myf-5 during mouse embryogenesis.

Authors:  A Rawls; J H Morris; M Rudnicki; T Braun; H H Arnold; W H Klein; E N Olson
Journal:  Dev Biol       Date:  1995-11       Impact factor: 3.582

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  3 in total

1.  Matrix metalloproteinase activity in the lung is increased in Hermansky-Pudlak syndrome.

Authors:  Ross Summer; Rachana Krishna; DeLeila Schriner; Karina Cuevas-Mora; Dominic Sales; Rachel Para; Jesse Roman; Carl Nieweld; Bernadette R Gochuico; Freddy Romero
Journal:  Orphanet J Rare Dis       Date:  2019-07-04       Impact factor: 4.123

2.  Dysregulated myosin in Hermansky-Pudlak syndrome lung fibroblasts is associated with increased cell motility.

Authors:  Jewel Imani; Steven P M Bodine; Anthony M Lamattina; Diane D Ma; Shikshya Shrestha; Dawn M Maynard; Kevin Bishop; Arinze Nwokeji; May Christine V Malicdan; Lauren C Testa; Raman Sood; Benjamin Stump; Ivan O Rosas; Mark A Perrella; Robert Handin; Lisa R Young; Bernadette R Gochuico; Souheil El-Chemaly
Journal:  Respir Res       Date:  2022-06-23

3.  BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.

Authors:  Andreas Gerondopoulos; Lars Langemeyer; Jin-Rui Liang; Andrea Linford; Francis A Barr
Journal:  Curr Biol       Date:  2012-10-18       Impact factor: 10.834

  3 in total

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