Advances in the Molecular Genetics of Non-syndromic Syndactyly

Advances in the Molecular Genetics of Non-syndromic Syndactyly

Syndactyly, webbing of adjacent digits with or without bony fusion, is one of the most common hereditary limb malformations. It occurs either as an isolated abnormality or as a component of more than 300 syndromic anomalies. There are currently nine types of phenotypically diverse nonsyndromic syndactyly. Non-syndromic syndactyly is usually inherited as an autosomal dominant trait, although the...

Molecular genetics of non - syndromic deafness Summary

The Genetics of Non-Syndromic Primary Ovarian Insufficiency: A Systematic Review

Purpose: Several causes for primary ovarian insufficiency have been described, including iatrogenic and environmental factor, viral infections, chronic disease as well as genetic alterations. Given the large number of genes described in the literature so far, the aim of this review was to collect all the genetic mutations associated with non-syndromic primary ovarian insufficiency. Methods: All...

Molecular genetics of syndromic and non‐syndromic forms of parathyroid carcinoma

Parathyroid carcinoma (PC) may occur as part of a complex hereditary syndrome or an isolated (i.e., non-syndromic) non-hereditary (i.e., sporadic) endocrinopathy. Studies of hereditary and syndromic forms of PC, which include the hyperparathyroidism-jaw tumor syndrome (HPT-JT), multiple endocrine neoplasia types 1 and 2 (MEN1 and MEN2), and familial isolated primary hyperparathyroidism (FIHP), ...

the effects of high non fibrous carbohydrates diet on milk production, inflammation and molecular mechanism of innate immunity in lactating dairy cows

پژوهش حاضر با هدف بررسی اثر جیره حاوی کربوهیدراتهای غیرالیافی زیاد و بروز التهاب در گاوهای شیرده در دو آزمایش جداگانه انجام شد. در آزمایش اول 20 رأس گاو مبتلا به ورم پستان از دو گروه کم تولید و پرتولید (هر کدام 10 رأس) و 20 رأس گاو سالم از دو گروه کم تولید و پرتولید (هر کدام 10 رأس) انتخاب شدند. همه گاوها در دوره دوم و یا سوم شیردهی و در روزهای 80-120 پس از زایش بودند. میانگین تولید شیر در گروه...