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The retinal pigmentation pathway in human albinism: Not so black and white.
Bakker R, Wagstaff EL, Kruijt CC, Emri E, van Karnebeek CDM, Hoffmann MB, Brooks BP, Boon CJF, Montoliu L, van Genderen MM, Bergen AA. Bakker R, et al. Prog Retin Eye Res. 2022 Nov;91:101091. doi: 10.1016/j.preteyeres.2022.101091. Epub 2022 Jun 18. Prog Retin Eye Res. 2022. PMID: 35729001 Free article. Review.
We hypothesise that defects affecting the genesis or function of different intra-cellular organelles, including melanosomes, cause syndromic forms of albinism (Hermansky-Pudlak (HPS) and Chediak-Higashi syndrome (CHS)). We put forward that specific melanosome …
We hypothesise that defects affecting the genesis or function of different intra-cellular organelles, including melanosomes, cause syndromic …
Rab38 Mutation and the Lung Phenotype.
Osanai K. Osanai K. Int J Mol Sci. 2018 Jul 27;19(8):2203. doi: 10.3390/ijms19082203. Int J Mol Sci. 2018. PMID: 30060521 Free PMC article. Review.
While chocolate mice only show oculocutaneous albinism, Ruby rats show oculocutaneous albinism and prolonged bleeding time and, hence, are a rat model of Hermansky-Pudlak syndrome (HPS). Most patients with HPS suffer from fatal interstitial pneumonia by middl …
While chocolate mice only show oculocutaneous albinism, Ruby rats show oculocutaneous albinism and prolonged bleeding time and, hence, are a …
A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies.
Boeckelmann D, Wolter M, Käsmann-Kellner B, Koehler U, Schieber-Nakamura L, Zieger B. Boeckelmann D, et al. Cells. 2021 Oct 1;10(10):2630. doi: 10.3390/cells10102630. Cells. 2021. PMID: 34685610 Free PMC article. Review.
Hermansky-Pudlak syndrome (HPS) is a heterogeneous disorder combining oculocutaneous albinism (OCA) and a platelet function disorder of varying severity as its most prominent features. ...Our study confirms that pathogenic variants of BLOC1S5 cause the recent …
Hermansky-Pudlak syndrome (HPS) is a heterogeneous disorder combining oculocutaneous albinism (OCA) and a platelet func …
Overlapping Machinery in Lysosome-Related Organelle Trafficking: A Lesson from Rare Multisystem Disorders.
Banushi B, Simpson F. Banushi B, et al. Cells. 2022 Nov 21;11(22):3702. doi: 10.3390/cells11223702. Cells. 2022. PMID: 36429129 Free PMC article. Review.
The formation, maturation and secretion of specific LROs are compromised in a number of hereditary rare multisystem disorders, including Hermansky-Pudlak syndromes, Griscelli syndrome and the Arthrogryposis, Renal dysfunction and Cholestasis syndrome. …
The formation, maturation and secretion of specific LROs are compromised in a number of hereditary rare multisystem disorders, including …
[Diagnosis of a case with Hermansky-Pudlak syndrome type 5 through high-throughput sequencing and a literature review].
Wang D, Huang J, Zhang K, Lyu Y, Gao M, Ma J, Wan Y, Gai Z, Liu Y. Wang D, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Nov 10;40(11):1392-1396. doi: 10.3760/cma.j.cn511374-20211101-00868. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37906148 Review. Chinese.
OBJECTIVE: To explore the clinical and genetic characteristics of a patient with Hermansky-Pudlak syndrome type 5 (HPS-5). METHODS: A child with HPS-5 who had attended the Children's Hospital Affiliated to Shandong University on October 3, 2019 was selected a …
OBJECTIVE: To explore the clinical and genetic characteristics of a patient with Hermansky-Pudlak syndrome type 5 (HPS- …
Hermansky-Pudlak syndrome and related disorders of organelle formation.
Huizing M, Anikster Y, Gahl WA. Huizing M, et al. Traffic. 2000 Nov;1(11):823-35. doi: 10.1034/j.1600-0854.2000.011103.x. Traffic. 2000. PMID: 11208073 Free article. Review.
Hermansky-Pudlak syndrome (HPS) consists of a group of genetically heterogeneous disorders which share the clinical findings of oculocutaneous albinism, a platelet storage pool deficiency, and some degree of ceroid lipofuscinosis. ...
Hermansky-Pudlak syndrome (HPS) consists of a group of genetically heterogeneous disorders which share the clinical fin …
Mouse models of Hermansky Pudlak syndrome: a review.
Swank RT, Novak EK, McGarry MP, Rusiniak ME, Feng L. Swank RT, et al. Pigment Cell Res. 1998 Apr;11(2):60-80. doi: 10.1111/j.1600-0749.1998.tb00713.x. Pigment Cell Res. 1998. PMID: 9585243 Review.
Hermansky Pudlak Syndrome (HPS) is a recessively inherited disease affecting the contents and/or the secretion of several related subcellular organelles including melanosomes, lysosomes, and platelet dense granules. ...
Hermansky Pudlak Syndrome (HPS) is a recessively inherited disease affecting the contents and/or the secretion of sever …
Inherited platelet disorders and oral health.
Valera MC, Kemoun P, Cousty S, Sie P, Payrastre B. Valera MC, et al. J Oral Pathol Med. 2013 Feb;42(2):115-24. doi: 10.1111/j.1600-0714.2012.01151.x. Epub 2012 May 15. J Oral Pathol Med. 2013. PMID: 22583386 Review.
The defects can reflect deficiency or dysfunction of platelet surface glycoproteins, granule contents, cytoskeletal proteins, platelet pro-coagulant function, and signaling pathways. For instance, Bernard-Soulier syndrome and Glanzmann thrombasthenia are attributed to defi …
The defects can reflect deficiency or dysfunction of platelet surface glycoproteins, granule contents, cytoskeletal proteins, platelet pro-c …
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.
Antitopoisomerase antibody positivity is associated with the carriage of human leukocyte antigen DRB1*11 and DPB1*1301 alleles, suggesting the recognition of a specific amino-acid motif. ...
Antitopoisomerase antibody positivity is associated with the carriage of human leukocyte antigen DRB1*11 and DPB1*1301 alleles, sugge …