نتایج جستجو برای: chediak

تعداد نتایج: 572  

Journal: :American journal of medical genetics. Part C, Seminars in medical genetics 2004
Yasushi Tomita Tamio Suzuki

The genetic and molecular bases of various types of congenital pigmentary disorders have been classified in the past 10 years, as follows: (1) disorders of melanoblast migration in the embryo from the neural crest to the skin: piebaldism; Waardenburg syndrome 1-4 (WS1-WS4); dyschromatosis symmetrica hereditaria. (2) Disorders of melanosome formation in the melanocyte: Hermansky-Pudlak syndrome ...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2004
Yuhua Su Rita J Balice-Gordon Darren M Hess Douglas S Landsman Jeremy Minarcik Jeffrey Golden Ivy Hurwitz Stephen A Liebhaber Nancy E Cooke

We report a random disruption in the mouse genome that resulted in lethal paralysis in homozygous newborns. The disruption blocked expression of neurobeachin, a protein containing a BEACH (beige and Chediak-Higashi) domain implicated in synaptic vesicle trafficking and an AKAP (A-kinase anchor protein) domain linked to localization of cAMP-dependent protein kinase activity. nbea-null mice demon...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید