Search Results - "Zlotnik, Dor"

Generation of iPSC lines from two (BGUi002-A and BGUi003-A) homozygous p450 oxidoreductase-deficient patients and from one (BGUi001-A) heterozygous healthy family relative by Zlotnik, Dor, Rabinski, Tatiana, Ofir, Rivka, Hershkovitz, Eli, Vatine, Gad D.

“…p450 oxidoreductase (POR) cytochromes are enzymes involved in the metabolism of steroids and sex hormones, in which POR acts as an electron donor. Inactivating…”
Get full text

Induced pluripotent stem cell (iPSC) lines from two individuals carrying a homozygous (BGUi007-A) and a heterozygous (BGUi006-A) mutation in ELP1 for in vitro modeling of familial dysautonomia by Dor, Lior, Rabinski, Tatiana, Zlotnik, Dor, Shilian, Michal, Weil, Miguel, Vatine, Gad D.

“…Familial Dysautonomia (FD) is an autosomal recessive congenital neuropathy affecting the development and function of the peripheral nervous system. FD causing…”
Get full text

Generation and characterization of iPSC lines (BGUi004-A, BGUi005-A) from two identical twins with polyalanine expansion in the paired-like homeobox 2B (PHOX2B) gene by Falik, Daniel, Rabinski, Tatiana, Zlotnik, Dor, Eshel, Reut, Zorsky, Meshi, Garin-Shkolnik, Tali, Ofir, Rivka, Adato, Avital, Ashkenazi, Avraham, Vatine, Gad D.

“…Congenital central hypoventilation syndrome (CCHS) is a rare life-threatening condition affecting the autonomic nervous system that usually presents shortly…”
Get full text

P450 oxidoreductase regulates barrier maturation by mediating retinoic acid metabolism in a model of the human BBB by Zlotnik, Dor, Rabinski, Tatiana, Halfon, Aviv, Anzi, Shira, Plaschkes, Inbar, Benyamini, Hadar, Nevo, Yuval, Gershoni, Orly Yahalom, Rosental, Benyamin, Hershkovitz, Eli, Ben-Zvi, Ayal, Vatine, Gad D.

“…The blood-brain barrier (BBB) selectively regulates the entry of molecules into the central nervous system (CNS). A crosstalk between brain microvascular…”
Get full text