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Literature DB >> 15758538

Molecular defects in the growth hormone-IGF axis.

Abstract

Many previously uncharacterized cases of poor growth in children, i.e. idiopathic short stature, are now attributable to genetic defects in the GH-IGF-1 axis. This paper will provide an overview of the clinical findings of patients identified with various genetic defects of the GH/IGF-1 axis with an emphasis on the more recently described syndromes.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 2005 PMID： 15758538 DOI： 10.1007/BF02760700

Source DB: PubMed Journal: Indian J Pediatr ISSN： 0019-5456 Impact factor: 1.967

22 in total

1. A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein.

Authors: K A Woods; N C Fraser; M C Postel-Vinay; M O Savage; A J Clark
Journal: J Clin Endocrinol Metab Date: 1996-05 Impact factor: 5.958

2. Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse.

Authors: M P Wajnrajch; J M Gertner; M D Harbison; S C Chua; R L Leibel
Journal: Nat Genet Date: 1996-01 Impact factor: 38.330

3. Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome).

Authors: A Sadeghi-Nejad; B Senior
Journal: J Pediatr Date: 1974-11 Impact factor: 4.406

4. Combined pituitary hormone deficiency caused by compound heterozygosity for two novel mutations in the POU domain of the Pit1/POU1F1 gene.

Authors: B I Hendriks-Stegeman; K D Augustijn; B Bakker; P Holthuizen; P C van der Vliet; M Jansen
Journal: J Clin Endocrinol Metab Date: 2001-04 Impact factor: 5.958

Molecular defects in the growth hormone-IGF axis.

1. A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein.

2. Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse.

3. Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome).

4. Combined pituitary hormone deficiency caused by compound heterozygosity for two novel mutations in the POU domain of the Pit1/POU1F1 gene.

5. Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene.

6. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.

7. Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.

Review 8. Genetic defects of the growth hormone-insulin-like growth factor axis.

9. Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency.

Review 10. Growth disorders caused by genetic defects in the growth hormone pathway.

1. Guest editor: P.S.N. Menon - Editorial: childhood and adolescence growth and growth disorders.