Entry
Name
Gene
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
Network
Disease
Reference
Authors
Kaji H, Nose O, Tajiri H, Takahashi Y, Iida K, Takahashi T, Okimura Y, Abe H, Chihara K
Title
Novel compound heterozygous mutations of growth hormone (GH) receptor gene in a patient with GH insensitivity syndrome.
Journal
Reference
Authors
Walker JL, Crock PA, Behncken SN, Rowlinson SW, Nicholson LM, Boulton TJ, Waters MJ
Title
A novel mutation affecting the interdomain link region of the growth hormone receptor in a Vietnamese girl, and response to long-term treatment with recombinant human insulin-like growth factor-I and luteinizing hormone-releasing hormone analogue.
Journal
Reference
Authors
Pilecka I, Whatmore A, Hooft van Huijsduijnen R, Destenaves B, Clayton P
Title
Growth hormone signalling: sprouting links between pathways, human genetics and therapeutic options.
Journal
Reference
Authors
Bartke A, Quainoo N
Title
Impact of Growth Hormone-Related Mutations on Mammalian Aging.
Journal
Reference
Authors
Amselem S, Sobrier ML, Dastot F, Duquesnoy P, Duriez B, Goossens M
Title
Molecular basis of inherited growth hormone resistance in childhood.
Journal
Reference
Authors
Guevara-Aguirre J, Balasubramanian P, Guevara-Aguirre M, Wei M, Madia F, Cheng CW, Hwang D, Martin-Montalvo A, Saavedra J, Ingles S, de Cabo R, Cohen P, Longo VD
Title
Growth hormone receptor deficiency is associated with a major reduction in pro-aging signaling, cancer, and diabetes in humans.
Journal
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