scholarly journals Periodic albinism of a widely used albino mutant of Xenopus laevis caused by deletion of two exons in the Hermansky–Pudlak syndrome type 4 gene

2020 ◽  
Author(s):  
Toshihiko Fukuzawa
Keyword(s):  
Xenopus Laevis ◽  
Syndrome Type ◽  
Albino Mutant ◽  
Hermansky Pudlak Syndrome

scholarly journals Ultrastructural Features of Trafficking Defects Are Pronounced in Melanocytic Nevus in Hermansky–Pudlak Syndrome Type 1

2005 ◽  
Vol 125 (1) ◽  
pp. 154-158 ◽  
Author(s):  
Ken Natsuga ◽  
Masashi Akiyama ◽  
Tadamichi Shimizu ◽  
Tamio Suzuki ◽  
Shiro Ito ◽  
...  
Keyword(s):  
Melanocytic Nevus ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome ◽  
Trafficking Defects

The first Hermansky–Pudlak syndrome type 9 patient with two novel variants in Chinese population

2021 ◽  
Author(s):  
Teng Liu ◽  
Yefeng Yuan ◽  
Dayong Bai ◽  
Xingfeng Yao ◽  
Tianjiao Zhang ◽  
...  
Keyword(s):  
Chinese Population ◽  
Syndrome Type ◽  
Novel Variants ◽  
Hermansky Pudlak Syndrome

Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder

2019 ◽  
Vol 62 (11) ◽  
pp. 103583 ◽  
Author(s):  
Mohammed Mohammed ◽  
Nadia Al-Hashmi ◽  
Samiya Al-Rashdi ◽  
Nashat Al-Sukaiti ◽  
Kawther Al-Adawi ◽  
...  
Keyword(s):  
Seizure Disorder ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome ◽  
Biallelic Mutations

Further studies on the melanophores of periodic albino mutant of Xenopus laevis

Development ◽  
1986 ◽  
Vol 91 (1) ◽  
pp. 65-78
Author(s):  
T. Fukuzawa ◽  
H. Ide
Keyword(s):  
Xenopus Laevis ◽  
Microscopic Level ◽  
Wild Type ◽  
Light Microscopic Level ◽  
In Vitro Proliferation ◽  
Albino Mutant ◽  
Site Of Action ◽  
Periodic Albino

It is still unknown why dermal melanophores disappear during larval development, and why no or very few epidermal melanophores appear during and after metamorphosis, in Xenopus laevis showing periodic albinism (ap). To elucidate these points, we investigated (1) the occurrence of depigmentation in mutant (ap/ap) melanophores during in vitro proliferation and (2) the incidence of melanophore differentiation from mutant melanoblasts in the skin in vitro. During in vitro proliferation of mutant melanophores, ap-type melanosomes decreased in number gradually and instead the number of premelanosomes increased in the cells, which caused depigmentation at the light microscopic level in the culture. Depigmentation was observed only in mutant melanophores, and not in wild-type (+/+) melanophores. These results suggest that autonomous depigmentation of mutant dermal melanophores is the cause of the disappearance of these cells in vivo. Dopa-positive melanoblasts were demonstrated in both wild-type and mutant skins. However, the melanoblasts of metamorphosed mutant froglets did not differentiate in vitro, while those of wild-type froglets did. These results suggest that mutant melanoblasts in the skin of froglets lose the potency to differentiate into melanophores, and that this causes the lack of mutant melanophores in the froglets. The site of action of the ap gene is also discussed.

A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies

Platelets ◽  
2020 ◽  
pp. 1-4
Author(s):  
Vincent Michaud ◽  
Mathieu Fiore ◽  
Valentine Coste ◽  
Yoann Huguenin ◽  
Jean-Claude Bordet ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Dense Bodies ◽  
Hermansky Pudlak Syndrome

scholarly journals Hermansky-Pudlak Syndrome Type 3 in Ashkenazi Jews and Other Non–Puerto Rican Patients with Hypopigmentation and Platelet Storage-Pool Deficiency

2001 ◽  
Vol 69 (5) ◽  
pp. 1022-1032 ◽  
Author(s):  
Marjan Huizing ◽  
Yair Anikster ◽  
Diana L. Fitzpatrick ◽  
Anna B. Jeong ◽  
Maria D’Souza ◽  
...  
Keyword(s):  
Puerto Rican ◽  
Syndrome Type ◽  
Ashkenazi Jews ◽  
Storage Pool ◽  
Platelet Storage ◽  
Hermansky Pudlak Syndrome ◽  
Type 3

Novel mutation in two brothers with Hermansky Pudlak syndrome type 3

2017 ◽  
Vol 67 ◽  
pp. 75-80 ◽  
Author(s):  
Kirstin Sandrock-Lang ◽  
Ingrid Bartsch ◽  
Nina Buechele ◽  
Udo Koehler ◽  
Carl Philipp Simon-Gabriel ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome ◽  
Type 3

Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis

2004 ◽  
Vol 127A (2) ◽  
pp. 201-207 ◽  
Author(s):  
Esther B. Bachli ◽  
Thomas Brack ◽  
Elisabeth Eppler ◽  
Thomas Stallmach ◽  
Ralph M. Trüeb ◽  
...  
Keyword(s):  
Sri Lanka ◽  
Pulmonary Fibrosis ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome
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