A Recurrent Signal Peptide Mutation in the Growth Hormone Releasing Hormone Receptor with Defective Translocation to the Cell Surface and Isolated Growth Hormone Deficiency

Signal Peptide ◽

Hormone Receptor ◽

Hormone Deficiency ◽

Isolated Growth Hormone Deficiency

Releasing Hormone ◽

Molecular Analysis of the Growth Hormone Releasing Hormone Receptor (GHRH-R) Gene in Isolated Growth Hormone Deficiency: Identification of a Likely Etiological Mutation in the Signal Peptide

International Journal on Disability and Human Development ◽

10.1515/ijdhd.2001.2.4.215 ◽

2001 ◽

Vol 2 (4) ◽

Author(s):

M. Lessi ◽

M. Giordano ◽

R. Paracchini ◽

A. Petri ◽

G. Federico ◽

...

Keyword(s):

Growth Hormone ◽

Molecular Analysis ◽

Signal Peptide ◽

Hormone Receptor ◽

Hormone Deficiency ◽

R Gene ◽

Isolated Growth Hormone Deficiency

Releasing Hormone ◽

Isolated Growth Hormone Deficiency: Testing the little Mouse Hypothesis in Man and Exclusion of Mutations within the Extracellular Domain of the Growth Hormone-Releasing Hormone Receptor

Pediatric Research ◽

10.1203/00006450-199512000-00022 ◽

1995 ◽

Vol 38 (6) ◽

pp. 962-966 ◽

Cited By ~ 14

Author(s):

Yumei Cao ◽

Johannes K Wagner ◽

Peter C Hindmarsh ◽

Andrée Eblé ◽

Primus E Mullis

Keyword(s):

Growth Hormone ◽

Hormone Receptor ◽

Extracellular Domain ◽

Hormone Deficiency ◽

Releasing Hormone ◽

Isolated Growth Hormone Deficiency ◽

Little Mouse

Novel compound heterozygous mutations of the growth hormone-releasing hormone receptor gene in a case of isolated growth hormone deficiency

Growth Hormone & IGF Research ◽

10.1016/j.ghir.2013.03.003 ◽

2013 ◽

Vol 23 (4) ◽

pp. 89-97 ◽

Cited By ~ 7

Author(s):

Akiko Soneda ◽

Masanori Adachi ◽

Koji Muroya ◽

Yumi Asakura ◽

Masaki Takagi ◽

...

Keyword(s):

Growth Hormone ◽

Hormone Receptor ◽

Receptor Gene ◽

Hormone Deficiency ◽

Compound Heterozygous ◽

Releasing Hormone ◽

Isolated Growth Hormone Deficiency ◽

Growth Hormone Releasing Hormone Receptor (GHRH-R) Gene Mutation in Indian Children with Familial Isolated Growth Hormone Deficiency: A Study from Western India

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem.2005.18.10.955 ◽

2005 ◽

Vol 18 (10) ◽

Cited By ~ 9

Author(s):

M P. Desai ◽

P.S. Upadhye ◽

T. Kamijo ◽

M. Yamamoto ◽

M. Ogawa ◽

...

Keyword(s):

Growth Hormone ◽

Gene Mutation ◽

Hormone Receptor ◽

Hormone Deficiency ◽

Western India ◽

R Gene ◽

Indian Children ◽

Releasing Hormone

A Novel Variant c.97C>T of the Growth Hormone Releasing Hormone Receptor Gene Causes Isolated Growth Hormone Deficiency Type Ib

Journal of Clinical Research in Pediatric Endocrinology ◽

10.4274/jcrpe.5188 ◽

2018 ◽

Vol 10 (3) ◽

pp. 284-288

Author(s):

Assimina Galli-Tsinopoulou ◽

Eleni P. Kotanidou ◽

Aggeliki N. Kleisarchaki ◽

Rivka Kauli ◽

Zvi Laron

Keyword(s):

Growth Hormone ◽

Hormone Receptor ◽

Receptor Gene ◽

Hormone Deficiency ◽

Releasing Hormone ◽

Novel Variant ◽

Deficiency Type ◽

Novel Growth Hormone-Releasing Hormone Receptor Gene Mutations in Turkish Children with Isolated Growth Hormone Deficiency

Journal of Clinical Research in Pediatric Endocrinology ◽

10.4274/jcrpe.1518 ◽

2014 ◽

Vol 6 (4) ◽

pp. 202-208 ◽

Cited By ~ 4

Author(s):

Ahmet Arman ◽

Bumin Nuri Dündar ◽

Ergun Çetinkaya ◽

Nilüfer Erzaim ◽

Atilla Büyükgebiz

Keyword(s):

Growth Hormone ◽

Hormone Receptor ◽

Receptor Gene ◽

Gene Mutations ◽

Hormone Deficiency ◽

Turkish Children ◽

Releasing Hormone ◽

Growth hormone releasing hormone receptor codon 72 mutation in a cohort of Sri Lankan patients with growth hormone deficiency

Ceylon Medical Journal ◽

10.4038/cmj.v61i1.8257 ◽

2016 ◽

Vol 61 (1) ◽

pp. 18 ◽

Cited By ~ 3

Author(s):

K S H De Silva ◽

K H Tennekoon ◽

T Sundralingam ◽

B Navarathne ◽

A S Hewage ◽

...

Keyword(s):

Growth Hormone ◽

Hormone Receptor ◽

Hormone Deficiency ◽

Sri Lankan ◽

Codon 72 ◽

Releasing Hormone

Familial Isolated Growth Hormone Deficiency Due to A Novel Homozygous Missense Mutation in the Growth Hormone Releasing Hormone Receptor Gene: Clinical Presentation With Hypoglycemia

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2014-2696 ◽

2014 ◽

Vol 99 (12) ◽

pp. E2730-E2734 ◽

Cited By ~ 6

Author(s):

Huseyin Demirbilek ◽

Sophia Tahir ◽

Riza Taner Baran ◽

Maha Sherif ◽

Pratik Shah ◽

...

Keyword(s):

Growth Hormone ◽

Missense Mutation ◽

Hormone Receptor ◽

Clinical Presentation ◽

Receptor Gene ◽

Hormone Deficiency ◽

Releasing Hormone ◽

Faculty Opinions recommendation of Familial isolated growth hormone deficiency due to a novel homozygous missense mutation in the growth hormone releasing hormone receptor gene: clinical presentation with hypoglycemia.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718877895.793509149 ◽

2015 ◽

Author(s):

Salvatore Benvenga ◽

Roberto Vita

Keyword(s):

Growth Hormone ◽

Missense Mutation ◽

Hormone Receptor ◽

Clinical Presentation ◽

Receptor Gene ◽

Hormone Deficiency ◽

Releasing Hormone ◽

A Mouse with Targeted Ablation of the Growth Hormone-Releasing Hormone Gene: A New Model of Isolated Growth Hormone Deficiency

Endocrinology ◽

10.1210/en.2004-0119 ◽

2004 ◽

Vol 145 (9) ◽

pp. 4134-4143 ◽

Cited By ~ 74

Author(s):

Maria Alba ◽

Roberto Salvatori

Keyword(s):

Growth Hormone ◽

Hormone Deficiency ◽

Isolated Growth Hormone Deficiency

New Model ◽

Releasing Hormone ◽