The extended human PTPome: A growing tyrosine phosphatase family.
Valladolid, Spain. In Febs J, Dec 2015
A Cys residue is essential for catalysis in PTPs, Rhodanese, and Arsenate Reductase enzymes, while this work is done by an Asp in HAD phosphatases and by a His in HPs, following a catalytic mechanism shared by all the different families.
Antigenic properties of N protein of hantavirus.
Sapporo, Japan. In Viruses, 2014
Hantavirus causes two important rodent-borne viral zoonoses, hemorrhagic fever with renal syndrome (HFRS) in Eurasia and hantavirus pulmonary syndrome (HPS) in North and South America.
[Hypomelanoses transmitted from generation to generation].
Laizhou, China. In Postepy Hig Med Dosw (online), 2013
These disorders are represented by oculocutaneous albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome, Menkes syndrome and phenylketonuria, and are caused by different mutations of the following genes: TYR, P, TRP1, MATP, HPS, CHS, MYO5A, RAB27A, MLPH, ATP7A and PAH.
Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.
Bethesda, United States. In J Invest Dermatol, 2011
Seven mutations (six previously unreported) were described in the HPS1, HPS4, and HPS5 genes among Hermansky-Pudlak Syndrome patients of Mexican, Uruguayan, Honduran, Cuban, Venezuelan, and Salvadoran ancestries.
Novel mutations in the HPS1 gene among Puerto Rican patients.
Bethesda, United States. In Clin Genet, 2011
a previously unreported missense mutation (G313S) at the 3' splice junction of exon 10 of Hermansky-Pudlak syndrome 1 protein resulted in activation of a cryptic intronic splice site causing an aberrantly spliced HPS1 mRNA