Literature DB >> 23364359

Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life.

Gillian C Lowe, Isabel Sánchez Guiu, Oliver Chapman, José Rivera, Marie Lordkipanidzé, Natalia Dovlatova, Jonathan Wilde, Steve P Watson, Neil V Morgan.   

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Year:  2013        PMID： 23364359      PMCID： PMC3641626          DOI： 10.1160/TH12-11-0876

Source DB:  PubMed          Journal:  Thromb Haemost        ISSN： 0340-6245            Impact factor:   5.249


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  11 in total

Review 1.  The building BLOC(k)s of lysosomes and related organelles.

Authors:  Esteban C Dell'Angelica
Journal:  Curr Opin Cell Biol       Date:  2004-08       Impact factor: 8.382

2.  Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease.

Authors:  Bernadette R Gochuico; Marjan Huizing; Gretchen A Golas; Charles D Scher; Maria Tsokos; Stacey D Denver; Melissa J Frei-Jones; William A Gahl
Journal:  Mol Med       Date:  2012-02-10       Impact factor: 6.354

3.  Hermansky-Pudlak syndrome (HPS). An epidemiologic study.

Authors:  C J Witkop; C Almadovar; B Piñeiro; M Nuñez Babcock
Journal:  Ophthalmic Paediatr Genet       Date:  1990-09

4.  Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect. A new syndrome.

Authors:  B H Davies; E G Tuddenham
Journal:  Q J Med       Date:  1976-04

5.  Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.

Authors:  Paul D Anderson; Marjan Huizing; David A Claassen; James White; William A Gahl
Journal:  Hum Genet       Date:  2003-03-27       Impact factor: 4.132

6.  A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8).

Authors:  Neil V Morgan; Shanaz Pasha; Colin A Johnson; John R Ainsworth; Robin A J Eady; Ban Dawood; Carole McKeown; Richard C Trembath; Jonathan Wilde; Steve P Watson; Eamonn R Maher
Journal:  Am J Hum Genet       Date:  2005-11-28       Impact factor: 11.025

7.  Sandy: a new mouse model for platelet storage pool deficiency.

Authors:  R T Swank; H O Sweet; M T Davisson; M Reddington; E K Novak
Journal:  Genet Res       Date:  1991-08       Impact factor: 1.588

8.  Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases.

Authors:  Christina R Hermos; Marjan Huizing; Muriel I Kaiser-Kupfer; William A Gahl
Journal:  Hum Mutat       Date:  2002-12       Impact factor: 4.878

9.  Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel.

Authors:  Ban B Dawood; Gillian C Lowe; Marie Lordkipanidzé; Danai Bem; Martina E Daly; Mike Makris; Andrew Mumford; Jonathan T Wilde; Steve P Watson
Journal:  Blood       Date:  2012-09-21       Impact factor: 22.113

10.  Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).

Authors:  Wei Li; Qing Zhang; Naoki Oiso; Edward K Novak; Rashi Gautam; Edward P O'Brien; Caroline L Tinsley; Derek J Blake; Richard A Spritz; Neal G Copeland; Nancy A Jenkins; Dominick Amato; Bruce A Roe; Marta Starcevic; Esteban C Dell'Angelica; Rosemary W Elliott; Vishnu Mishra; Stephen F Kingsmore; Richard E Paylor; Richard T Swank
Journal:  Nat Genet       Date:  2003-08-17       Impact factor: 38.330
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  8 in total

1.  Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing.

Authors:  Jose María Bastida; Sara Morais; Veronica Palma-Barqueros; Rocio Benito; Nuria Bermejo; Mutlu Karkucak; Maria Trapero-Marugan; Natalia Bohdan; Mónica Pereira; Ana Marin-Quilez; Jorge Oliveira; Yusuf Yucel; Rosario Santos; Jose Padilla; Kamila Janusz; Catarina Lau; Marta Martin-Izquierdo; Eduarda Couto; Juan Francisco Ruiz-Pividal; Vicente Vicente; Jesus Maria Hernández-Rivas; Jose Ramon González-Porras; Maria Luisa Lozano; Margarida Lima; Jose Rivera
Journal:  Ann Med       Date:  2019-04-16       Impact factor: 4.709

Review 2.  The road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases.

Authors:  Shanna L Bowman; Jing Bi-Karchin; Linh Le; Michael S Marks
Journal:  Traffic       Date:  2019-06       Impact factor: 6.215

3.  Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.

Authors:  Melanie M Bryan; Nathanial J Tolman; Karen L Simon; Marjan Huizing; Robert B Hufnagel; Brian P Brooks; Vladislav Speransky; James C Mullikin; William A Gahl; May Christine V Malicdan; Bernadette R Gochuico
Journal:  Mol Genet Metab       Date:  2017-02-27       Impact factor: 4.797

4.  Evaluation of a whole blood remote platelet function test for the diagnosis of mild bleeding disorders.

Authors:  N Dovlatova; M Lordkipanidzé; G C Lowe; B Dawood; J May; S Heptinstall; S P Watson; S C Fox
Journal:  J Thromb Haemost       Date:  2014-05       Impact factor: 5.824

5.  Sex-dimorphic effects of biogenesis of lysosome-related organelles complex-1 deficiency on mouse perinatal brain development.

Authors:  Frank Y Lee; Jennifer Larimore; Victor Faundez; Esteban C Dell'Angelica; Cristina A Ghiani
Journal:  J Neurosci Res       Date:  2020-05-20       Impact factor: 4.433

Review 6.  A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies.

Authors:  Doris Boeckelmann; Mira Wolter; Barbara Käsmann-Kellner; Udo Koehler; Lea Schieber-Nakamura; Barbara Zieger
Journal:  Cells       Date:  2021-10-01       Impact factor: 6.600

7.  Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7).

Authors:  Doris Boeckelmann; Mira Wolter; Katharina Neubauer; Felix Sobotta; Antonia Lenz; Hannah Glonnegger; Barbara Käsmann-Kellner; Jasmin Mann; Stephan Ehl; Barbara Zieger
Journal:  Front Pharmacol       Date:  2022-01-19       Impact factor: 5.810

8.  Hermansky-Pudlak syndrome: Mutation update.

Authors:  Marjan Huizing; May C V Malicdan; Jennifer A Wang; Hadass Pri-Chen; Richard A Hess; Roxanne Fischer; Kevin J O'Brien; Melissa A Merideth; William A Gahl; Bernadette R Gochuico
Journal:  Hum Mutat       Date:  2020-01-23       Impact factor: 4.700
  8 in total

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