Isolated Autosomal Dominant Growth Hormone Deficiency: Stimulating MutantGH-1Gene Expression DrivesGH-1Splice-Site Selection, Cell Proliferation, and Apoptosis
نویسندگان
چکیده
منابع مشابه
Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study.
Four distinct familial types of isolated GH deficiency have been described so far, of which type II is the autosomal dominant inherited form. It is mainly caused by mutations within the first 6 bp of intervening sequence 3. However, other splice site and missense mutations have been reported. Based on in vitro experiments and transgenic animal data, there is strong evidence that there is a wide...
متن کاملGrowth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib.
Pseudohypoparathyroidism (PHP) is associated with compromised signal transductions via PTH receptor (PTH-R) and other G-protein-coupled receptors including GHRH-R. To date, while GH deficiency (GHD) has been reported in multiple patients with PHP-Ia caused by mutations on the maternally expressed GNAS coding regions and in two patients with sporadic form of PHP-Ib accompanied by broad methylati...
متن کاملExon splice enhancer mutation (GH-E32A) causes autosomal dominant growth hormone deficiency.
CONTEXT AND OBJECTIVE Alteration of exon splice enhancers (ESE) may cause autosomal dominant GH deficiency (IGHD II). Disruption analysis of a (GAA) (n) ESE motif within exon 3 by introducing single-base mutations has shown that single nucleotide mutations within ESE1 affect pre-mRNA splicing. DESIGN, SETTING, AND PATIENTS Confirming the laboratory-derived data, a heterozygous splice enhancer...
متن کاملAutosomal dominant isolated ('uncomplicated') microcephaly.
A large family (13 affected members in three generations) is reported in which isolated microcephaly occurred without any other dysmorphic or neurological abnormalities. The family pedigree confirms the autosomal dominant mode of inheritance with incomplete penetrance, including one example of male to male transmission and the occurrence of a non-manifesting heterozygote resulting in a 'skipped...
متن کاملThyroid ultrasonography in congenital isolated thyroid stimulating hormone deficiency.
The effects of thyroid stimulating hormone (TSH) deficiency on thyroid development was examined using ultrasonography in a child with congenital isolated TSH deficiency. Ultrasound revealed the thyroid gland was one sixth normal volume, suggesting that TSH plays an important part in thyroid growth, but not a critical role in differentiation.
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ژورنال
عنوان ژورنال: Endocrinology
سال: 2007
ISSN: 0013-7227,1945-7170
DOI: 10.1210/en.2006-0772