089: Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodentia

A MITF Mutation Associated with a Dominant White Phenotype and Bilateral Deafness in German Fleckvieh Cattle

A dominantly inherited syndrome associated with hypopigmentation, heterochromia irides, colobomatous eyes and bilateral hearing loss has been ascertained in Fleckvieh cattle (German White Fleckvieh syndrome). This syndrome has been mapped to bovine chromosome (BTA) 22 using a genome-wide association study with the bovine high density single nucleotide polymorphism array. An R210I missense mutat...

the past hospitalization and its association with suicide attempts and ideation in patients with mdd and comparison with bmd (depressed type) group

چکیده ندارد.

Dietary patterns associated with metabolic syndrome: The Khorramabad Study

Background: Metabolic syndrome (MetS) is a complex disorder considered as a worldwide epidemic. The aim of this study was to characterize the dietary patterns of Iranian adults and examine its association with metabolic syndrome. Methods: In this cross-sectional study, 973 persons were selected using multi-stage cluster, random sampling method in Khorramabad city. Dietary intake was assessed us...

Pemphigus vegetans associated with verrucous lesions: expanding a phenotype.

Cardiopulmonary phenotype associated with human PHD2 mutation

Oxygen-dependent regulation of the erythropoietin gene is mediated by the hypoxia-inducible factor (HIF) family of transcription factors. When oxygen is plentiful, HIF undergoes hydroxylation by a family of oxygen-dependent prolyl hydroxylase domain (PHD) proteins, promoting its association with the von Hippel-Lindau (VHL) ubiquitin E3 ligase and subsequent proteosomal degradation. When oxygen ...