BIOMAT Database Logo BIOMAT Database Logo

Growth hormone-receptor gene in Laron dwarfism. 1990

S Bass, and J Wells

UI MeSH Term Description Entries
D011986 Receptors, Somatotropin Cell surface proteins that bind GROWTH HORMONE with high affinity and trigger intracellular changes influencing the behavior of cells. Activation of growth hormone receptors regulates amino acid transport through cell membranes, RNA translation to protein, DNA transcription, and protein and amino acid catabolism in many cell types. Many of these effects are mediated indirectly through stimulation of the release of somatomedins. Growth Hormone Receptors,Receptors, Growth Hormone,Somatomammotropin Receptors,Somatotropin Receptors,Growth Hormone Receptor,Receptor, Growth Hormone,Receptors, Somatomammotropin,Somatomammotropin Receptor,Somatotropin Receptor,Hormone Receptor, Growth,Hormone Receptors, Growth
D004392 Dwarfism A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height. Nanism
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

Related Publications

S Bass, and J Wells
Receptor-active growth hormone in Laron dwarfism.
February 1976, The Journal of clinical endocrinology and metabolism,
S Bass, and J Wells
Laron dwarfism and mutations of the growth hormone-receptor gene.
October 1989, The New England journal of medicine,
S Bass, and J Wells
Growth hormone insensitivity syndrome (Laron dwarfism).
January 1998, Hormone research,
S Bass, and J Wells
Absence of serum growth hormone binding protein in patients with growth hormone receptor deficiency (Laron dwarfism).
July 1987, Proceedings of the National Academy of Sciences of the United States of America,
S Bass, and J Wells
Peripheral unresponsiveness to human growth hormone in Laron dwarfism.
November 1980, The New England journal of medicine,
S Bass, and J Wells
Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism.
March 1991, The Journal of clinical investigation,
S Bass, and J Wells
Novel splice site mutation in the growth hormone receptor gene in Turkish patients with Laron-type dwarfism.
January 2008, Journal of pediatric endocrinology & metabolism : JPEM,
S Bass, and J Wells
A Recurrent Mutation in Growth Hormone Receptor (GHR) Gene Underlying Laron-type Dwarfism in a Pakistani Family.
September 2023, The Yale journal of biology and medicine,
S Bass, and J Wells
Diverse growth hormone receptor gene mutations in Laron syndrome.
May 1993, American journal of human genetics,
S Bass, and J Wells
A homozygous nonsense mutation of the human growth hormone receptor gene in a Sardinian boy with Laron-type dwarfism.
May 1997, Journal of endocrinological investigation,
Copied contents to your clipboard!