Literature DB >> 546241

Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism.

C J Witkop.   

Abstract

Entities:  

Mesh：

Year:  1979        PMID： 546241

Source DB:  PubMed          Journal:  Ala J Med Sci        ISSN： 0002-4252


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  8 in total

1.  SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

Authors:  Fanny Morice-Picard; Eulalie Lasseaux; Stéphane François; Delphine Simon; Caroline Rooryck; Eric Bieth; Estelle Colin; Dominique Bonneau; Hubert Journel; Sophie Walraedt; Bart P Leroy; Francoise Meire; Didier Lacombe; Benoit Arveiler
Journal:  J Invest Dermatol       Date:  2013-08-28       Impact factor: 8.551

Review 2.  Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues.

Authors:  Emily Z Ma; Albert E Zhou; Karl M Hoegler; Amor Khachemoune
Journal:  Arch Dermatol Res       Date:  2022-02-25       Impact factor: 3.017

3.  Comparison of Various Solvent Extracts and Major Bioactive Components from Portulaca oleracea for Antioxidant, Anti-Tyrosinase, and Anti-α-Glucosidase Activities.

Authors:  Wei-Cheng Chen; Shih-Wei Wang; Cai-Wei Li; Hsiang-Ru Lin; Chang-Syun Yang; Yi-Cheng Chu; Tzong-Huei Lee; Jih-Jung Chen
Journal:  Antioxidants (Basel)       Date:  2022-02-16

4.  Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis.

Authors:  Zilin Zhong; Li Gu; Xiujie Zheng; Nengjun Ma; Zehua Wu; Juan Duan; Jun Zhang; Jianjun Chen
Journal:  Pigment Cell Melanoma Res       Date:  2019-05-29       Impact factor: 4.693

Review 5.  Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors.

Authors:  Carolina Reato Marçon; Marcus Maia
Journal:  An Bras Dermatol       Date:  2019-09-30       Impact factor: 1.896

6.  Multiple sgRNAs facilitate base editing-mediated i-stop to induce complete and precise gene disruption.

Authors:  Kun Jia; Zongyang Lu; Fei Zhou; Zhiqi Xiong; Rui Zhang; Zhiwei Liu; Yu'e Ma; Lei He; Cong Li; Zhen Zhu; Dejing Pan; Zhengxing Lian
Journal:  Protein Cell       Date:  2019-11       Impact factor: 14.870

Review 7.  Oculocutaneous albinism.

Authors:  Karen Grønskov; Jakob Ek; Karen Brondum-Nielsen
Journal:  Orphanet J Rare Dis       Date:  2007-11-02       Impact factor: 4.123

8.  First observation of a chimpanzee with albinism in the wild: Social interactions and subsequent infanticide.

Authors:  Maël Leroux; Gideon Monday; Bosco Chandia; John W Akankwasa; Klaus Zuberbühler; Catherine Hobaiter; Catherine Crockford; Simon W Townsend; Caroline Asiimwe; Pawel Fedurek
Journal:  Am J Primatol       Date:  2021-07-16       Impact factor: 3.014
  8 in total

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