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    GHRHR growth hormone releasing hormone receptor [ Homo sapiens (human) ]

    Gene ID: 2692, updated on 27-Aug-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.

    Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.
    Kırkgöz T, Gürsoy S, Acar S, Nalbantoğlu Ö, Özkaya B, Anıl Korkmaz H, Hazan F, Özkan B., Free PMC Article

    11/14/2023
    Expression of Growth Hormone-Releasing Hormone and Its Receptor Splice Variants in Primary Human Endometrial Carcinomas: Novel Therapeutic Approaches.

    Expression of Growth Hormone-Releasing Hormone and Its Receptor Splice Variants in Primary Human Endometrial Carcinomas: Novel Therapeutic Approaches.
    Szabo Z, Juhasz E, Schally AV, Dezso B, Huga S, Hernadi Z, Halmos G, Kiss C., Free PMC Article

    05/28/2022
    Constitutive signal bias mediated by the human GHRHR splice variant 1.

    Constitutive signal bias mediated by the human GHRHR splice variant 1.
    Cong Z, Zhou F, Zhang C, Zou X, Zhang H, Wang Y, Zhou Q, Cai X, Liu Q, Li J, Shao L, Mao C, Wang X, Wu J, Xia T, Zhao LH, Jiang H, Zhang Y, Xu HE, Cheng X, Yang D, Wang MW., Free PMC Article

    12/18/2021
    Disruption of the GHRH receptor and its impact on children and adults: The Itabaianinha syndrome.

    Disruption of the GHRH receptor and its impact on children and adults: The Itabaianinha syndrome.
    Aguiar-Oliveira MH, Salvatori R.

    12/18/2021
    Vestibular function in severe GH deficiency due to an inactivating mutation in the GH-releasing hormone receptor gene.

    Vestibular function in severe GH deficiency due to an inactivating mutation in the GH-releasing hormone receptor gene.
    Santos-Carvalho HA, Aguiar-Oliveira MH, Salvatori R, Valença EHO, Andrade-Guimarães AL, Palanch-Repeke CE, Moreira-Cândido LP, Araújo-Daniel CR, de Oliveira-Barreto AC, Andrade BMR, Oliveira AHA, Vieira ER, Gois-Junior MB.

    07/10/2021
    Structural basis for activation of the growth hormone-releasing hormone receptor.

    Structural basis for activation of the growth hormone-releasing hormone receptor.
    Zhou F, Zhang H, Cong Z, Zhao LH, Zhou Q, Mao C, Cheng X, Shen DD, Cai X, Ma C, Wang Y, Dai A, Zhou Y, Sun W, Zhao F, Zhao S, Jiang H, Jiang Y, Yang D, Eric Xu H, Zhang Y, Wang MW., Free PMC Article

    11/21/2020
    Study investigated the signaling axis of GHRH-R and found evidence showing how GHRH-R is up-regulated after stimulation of LPS in human ciliary epithelial cells and the contribution of a noncanonical signaling axis of GHRH-R that involves JAK2 and STAT3 in acute ocular inflammation.

    Signaling mechanisms of growth hormone-releasing hormone receptor in LPS-induced acute ocular inflammation.
    Liang WC, Ren JL, Yu QX, Li J, Ng TK, Chu WK, Qin YJ, Chu KO, Schally AV, Pang CP, Chan SO., Free PMC Article

    07/18/2020
    The finding that 8% of IGHD cases without GH1 mutations are explained by GHRHR molecular defects (including missense mutations), together with the high proportion of sporadic cases among those patients, has important implications for genetic counseling.

    Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
    Cohen E, Belkacem S, Fedala S, Collot N, Khallouf E, Dastot F, Polak M, Duquesnoy P, Brioude F, Rose S, Viot G, Soleyan A, Carel JC, Sobrier ML, Chanson P, Gatelais F, Heinrichs C, Kaffel N, Coutant R, Savaş Erdeve Ş, Kurnaz E, Aycan Z, Thalassinos C, Lyonnet S, Şıklar Z, Berberoglu M, Brachet C, Amselem S, Legendre M.

    03/14/2020
    Our results demonstrate a direct action of LPS on ciliary and iris epithelial cells to produce pro-inflammatory factors through a GHRH-R mediated mechanism, and suggest a role of these epithelial cells, in addition to the resident antigen presenting cells, in immune surveillance of the eye. Infiltrating leukocytes may enhance these inflammatory responses by regulating GHRH-R in ciliary and iris epithelial cells, in additi

    Growth hormone-releasing hormone receptor mediates cytokine production in ciliary and iris epithelial cells during LPS-induced ocular inflammation.
    Ren JL, Yu QX, Ma D, Liang WC, Leung PY, Ng TK, Chu WK, Schally AV, Pang CP, Chan SO.

    02/15/2020
    Deletion at the GHRHR gene locus mediated by Alu specific microhomology is associated with isolated growth hormone deficiency.

    Novel gross deletion at the GHRHR gene locus possibly mediated by Alu specific microhomology identified in a Sri Lankan patient with isolated growth hormone deficiency.
    Sundralingam T, Tennekoon KH, de Silva S, De Silva S, Hewage S, Ranasinghe R.

    03/16/2019
    Mutation in GHRHR is associated with pituitary diseases.

    Hypothalamic abnormalities: Growth failure due to defects of the GHRH receptor.
    Aguiar-Oliveira MH, Davalos C, Campos VC, Oliveira Neto LA, Marinho CG, Oliveira CRP.

    09/1/2018
    Report GHRH-R labelling of apocrine glands and neoplastic epithelium in adnexal tumours and apocrine glands of the skin.

    Expression of growth hormone-releasing hormone receptors in apocrine adnexal tumours and apocrine glands of the skin.
    Kővári B, Kocsis L, Varga E, Cserni G.

    08/4/2018
    genetic association studies in pediatric population in Japan: Data suggest that mutations in ACAN (aggrecan), FGFR3 (fibroblast growth factor receptor-3), or GHRHR (growth- hormone-releasing-hormone receptor) are associated with idiopathic short stature in the population studied.

    Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.
    Hattori A, Katoh-Fukui Y, Nakamura A, Matsubara K, Kamimaki T, Tanaka H, Dateki S, Adachi M, Muroya K, Yoshida S, Ida S, Mitani M, Nagasaki K, Ogata T, Suzuki E, Hata K, Nakabayashi K, Matsubara Y, Narumi S, Tanaka T, Fukami M.

    07/14/2018
    Single nucleotide variant in GHRHR gene is associated with isolated growth hormone deficiency.

    Pathogenic and likely pathogenic genetic alterations and polymorphisms in growth hormone gene (GH1) and growth hormone releasing hormone receptor gene (GHRHR) in a cohort of isolated growth hormone deficient (IGHD) children in Sri Lanka.
    Sundralingam T, Tennekoon KH, de Silva S, De Silva S, Hewage AS.

    06/30/2018
    GHRHR mutation is associated with growth hormone deficiency.

    Molecular genetics of growth hormone deficient children: correlation with auxology and response to first year of growth hormone therapy.
    Khadilkar V, Phadke N, Khatod K, Ekbote V, Gupte SP, Nadar R, Khadilkar A.

    03/31/2018
    GH1 and GHRHR screening revealed eleven variations in 24 (21%) patients with isolated growth hormone deficiency of which, four were novel deleterious, one novel non-pathogenic and six reported changes.

    Identification of novel GHRHR and GH1 mutations in patients with isolated growth hormone deficiency.
    Birla S, Khadgawat R, Jyotsna VP, Jain V, Garg MK, Bhalla AS, Sharma A.

    01/27/2018
    The pP79L mutation is associated with the compromise in function, with the residual partial activity explaining the mild phenotype.

    Partial Loss of Function of the GHRH Receptor Leads to Mild Growth Hormone Deficiency.
    Gregory LC, Alatzoglou KS, McCabe MJ, Hindmarsh PC, Saldanha JW, Romano N, Le Tissier P, Dattani MT.

    07/1/2017
    This is the first report to demonstrate the GHRH-R codon 72 mutation in Sri Lankan patients with confirmed growth hormone deficiency.

    Growth hormone releasing hormone receptor codon 72 mutation in a cohort of Sri Lankan patients with growth hormone deficiency.
    de Silva KS, Tennekoon KH, Sundralingam T, Navarathne B, Hewage AS, de Silva WS, Ganihigama D, Jayasinghe HD, Muhandiram ME.

    02/4/2017
    GHRH and GHRH-R loops are involved in placental choriocarcinoma cell line viability and apoptosis through Akt and eIF2a pathways.

    Impact of Axis of GHRH and GHRH Receptor on Cell Viability and Apoptosis of the Placental Choriocarcinoma Cell Line.
    Liu AX, Zhang D, Zhu YM, Gao HJ, Jiang JY, Hu XL, Lv PP, Leung PC, Huang HF.

    12/17/2016
    This study shows that GHRH-R is expressed by the majority of malignant mixed Mullerian tumors in both epithelial and mesenchymal components

    GHRH Receptor Expression in Malignant Mixed Müllerian Tumors: A Potentially Targetable Biopredictor.
    Mackrides N, Ganjei-Azar P, Perez R, Cui T, Block N, Schally AV, Nadji M.

    12/17/2016
    Identification of new missense mutations and an insertion mutation for the GHRHR gene in patients with isolated growth hormone deficiency.

    Novel growth hormone-releasing hormone receptor gene mutations in Turkish children with isolated growth hormone deficiency.
    Arman A, Dündar BN, Çetinkaya E, Erzaim N, Büyükgebiz A., Free PMC Article

    03/26/2016
    A reduced stature in older subjects heterozygous for the c.57+1G>A GHRHR mutation, indicating different effects of heterozygosis through lifespan.

    Older individuals heterozygous for a growth hormone-releasing hormone receptor gene mutation are shorter than normal subjects.
    Aguiar-Oliveira MH, Cardoso-Filho MA, Pereira RM, Oliveira CR, Souza AH, Santos EG, Campos VC, Valença EH, de Oliveira FT, Oliveira-Neto LA, Gois-Junior MB, Oliveira-Santos AA, Salvatori R.

    03/5/2016
    we found that pGHRH-R and its main splice variant are expressed in thyroid tissue and was upregulated in tumor cells compared to normal thyroid cells

    Expression of Receptors for Pituitary-Type Growth Hormone-Releasing Hormone (pGHRH-R) in Human Papillary Thyroid Cancer Cells: Effects of GHRH Antagonists on Matrix Metalloproteinase-2.
    Catanuto P, Tashiro J, Rick FG, Sanchez P, Solorzano CC, Glassberg MK, Block NL, Lew JI, Elliot SJ, Schally AV., Free PMC Article

    10/10/2015
    Indel mutation in the growth hormone releasing hormone receptor gene is associated with isolated growth hormone deficiency.

    A novel gross indel in the growth hormone releasing hormone receptor gene of Indian IGHD patients.
    Kale S, Budyal S, Kasaliwal R, Shivane V, Raghavan V, Lila A, Bandgar T, Shah N.

    08/22/2015
    These preliminary results suggest a greater than average GHRH-R expression in invasive lobular carcinomas and invasive ductal carcinomas associated with casting-type calcifications on the mammogram.

    Differential immunostaining of various types of breast carcinomas for growth hormone-releasing hormone receptor - Apocrine epithelium and carcinomas emerging as uniformly positive.
    Kővári B, Rusz O, Schally AV, Kahán Z, Cserni G.

    11/22/2014
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