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Year Number of Results
2001 1
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2005 4
2013 1
2017 1
2019 1
2022 1
2023 1

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Page 1
Tyrp1 and oculocutaneous albinism type 3.
Sarangarajan R, Boissy RE. Sarangarajan R, et al. Pigment Cell Res. 2001 Dec;14(6):437-44. doi: 10.1034/j.1600-0749.2001.140603.x. Pigment Cell Res. 2001. PMID: 11775055 Review.
Mutations in the mouse Tyrp1 gene are associated with brown pelage, and in the human TYRP1 gene with oculocutaneous albinism type 3 (OCA3). In the murine system, Tyrp1 expresses significant dihydroxyindole carboxylic acid oxidase (i.e. ...
Mutations in the mouse Tyrp1 gene are associated with brown pelage, and in the human TYRP1 gene with oculocutaneous albinism …
Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.
Ullah MI. Ullah MI. Genes (Basel). 2022 Jun 16;13(6):1072. doi: 10.3390/genes13061072. Genes (Basel). 2022. PMID: 35741834 Free PMC article. Review.
Oculocutaneous albinism (OCA) is an autosomal recessive syndromic and non-syndromic defect with deficient or a complete lack of the melanin pigment. ...A new type of OCA8 was identified due to the DCT gene mutation, and it is also reviewed here....
Oculocutaneous albinism (OCA) is an autosomal recessive syndromic and non-syndromic defect with deficient or a complete lack o …
[Mutations and polymorphisms of the P gene associated with oculocutaneous albinism type II].
Duan HL, Zheng H, Li HY. Duan HL, et al. Yi Chuan. 2005 Nov;27(6):984-8. Yi Chuan. 2005. PMID: 16378950 Review. Chinese.
Oculocutaneous albinism typeII(OCA2), the most common type of albinism, is an autosomal recessive disorder. ...
Oculocutaneous albinism typeII(OCA2), the most common type of albinism, is an autosomal recessive disorder. ...
Albinism (OCA2) in Amerindians.
Woolf CM. Woolf CM. Am J Phys Anthropol. 2005;Suppl 41:118-40. doi: 10.1002/ajpa.20357. Am J Phys Anthropol. 2005. PMID: 16369963 Review.
Homozygosity for a mutation in the P locus mapped to the human chromosome 15q11.2-12 results in tyrosinase-positive albinism (OCA2). This type of albinism has a worldwide distribution, with a prevalence of about 1 in 36,000 among European-Americans in the Uni …
Homozygosity for a mutation in the P locus mapped to the human chromosome 15q11.2-12 results in tyrosinase-positive albinism (OCA2). …
Papillon-Lefèvre syndrome with albinism: a review of the literature and report of 2 brothers.
Hattab FN, Amin WM. Hattab FN, et al. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2005 Dec;100(6):709-16. doi: 10.1016/j.tripleo.2004.08.030. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2005. PMID: 16301152 Review.
OBJECTIVE: The objective was to present the first report, which describes the concurrence of PLS and albinism. The etiology, pathology, and management of the condition were reviewed and genetic analysis was performed. ...The patients exhibited the typical clinical features …
OBJECTIVE: The objective was to present the first report, which describes the concurrence of PLS and albinism. The etiology, patholog …
Genetics of fibrosing lung diseases.
Grutters JC, du Bois RM. Grutters JC, et al. Eur Respir J. 2005 May;25(5):915-27. doi: 10.1183/09031936.05.00133404. Eur Respir J. 2005. PMID: 15863652 Free article. Review.
Genetic studies in familial lung fibrosis have demonstrated an association with surfactant protein C genes: two mutations have been found resulting in protein misfolding and causing type-II epithelial cell injury. Remarkably, different histological patterns were observed i …
Genetic studies in familial lung fibrosis have demonstrated an association with surfactant protein C genes: two mutations have been found re …
The road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases.
Bowman SL, Bi-Karchin J, Le L, Marks MS. Bowman SL, et al. Traffic. 2019 Jun;20(6):404-435. doi: 10.1111/tra.12646. Traffic. 2019. PMID: 30945407 Free PMC article. Review.
Lysosome-related organelles (LROs) comprise a diverse group of cell type-specific, membrane-bound subcellular organelles that derive at least in part from the endolysosomal system but that have unique contents, morphologies and functions to support specific physiological r …
Lysosome-related organelles (LROs) comprise a diverse group of cell type-specific, membrane-bound subcellular organelles that derive …
[Clinical and molecular genetic analysis of Angelman syndrome with oculocutaneous albinism type 2: A case report and literature review].
Zhou QJ, Gong P, Jiao XR, Yang ZX. Zhou QJ, et al. Beijing Da Xue Xue Bao Yi Xue Ban. 2023 Feb 18;55(1):181-185. doi: 10.19723/j.issn.1671-167X.2023.01.028. Beijing Da Xue Xue Bao Yi Xue Ban. 2023. PMID: 36718709 Free PMC article. Review. Chinese.
To summarize the clinical diagnosis and treatment process and genetic test results and characteristics of one child with Angelman syndrome (AS) complicated with oculocutaneous albinism type 2 (OCA2), and to review the literature. "Angelman syndrome" "P gene" …
To summarize the clinical diagnosis and treatment process and genetic test results and characteristics of one child with Angelman syndrome ( …
Congenital neutropenia: advances in diagnosis and treatment.
Badolato R, Fontana S, Notarangelo LD, Savoldi G. Badolato R, et al. Curr Opin Allergy Clin Immunol. 2004 Dec;4(6):513-21. doi: 10.1097/00130832-200412000-00007. Curr Opin Allergy Clin Immunol. 2004. PMID: 15640692 Review.
Understanding the pathogenesis of these forms of neutropenia and their evolution will focus future studies on the mechanisms of normal and pathological myelopoiesis and on the development of the most appropriate treatment for each type of neutropenia....
Understanding the pathogenesis of these forms of neutropenia and their evolution will focus future studies on the mechanisms of normal and p …
Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations.
Loredana Asztalos M, Schafernak KT, Gray J, Berry A, Paller AS, Mancini AJ. Loredana Asztalos M, et al. Pediatr Dermatol. 2017 Nov;34(6):638-646. doi: 10.1111/pde.13266. Epub 2017 Oct 16. Pediatr Dermatol. 2017. PMID: 29044644 Review.
Pulmonary fibrosis induced by tissue damage is seen in the most severe forms, and one subtype is characterized by immunodeficiency. We describe two patients with HPS type 1 and review the updated gene-based classification, clinical features, and recommendations for evaluat …
Pulmonary fibrosis induced by tissue damage is seen in the most severe forms, and one subtype is characterized by immunodeficiency. We descr …
11 results