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Did you mean ghrh (3,740 results)?
A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.
Ahmad S, Ali MZ, Abbasi SW, Abbas S, Ahmed I, Abbas S, Nawaz S, Ziab M, Ahmed I, Fakhro KA, Khan MA, Akil AA. Ahmad S, et al. Front Endocrinol (Lausanne). 2023 Mar 7;14:1066182. doi: 10.3389/fendo.2023.1066182. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 36960394 Free PMC article.
(Glu72*)] in the third exon of the growth-hormone-releasing hormone receptor gene GHRHR (MIM#139191) that was segregated in all patients. The substituted amber codon (UAG) seems to truncate the protein by deleting the C-terminus GPCR domain, thus markedly disturbing the …
(Glu72*)] in the third exon of the growth-hormone-releasing hormone receptor gene GHRHR (MIM#139191) that was segregated in all patie …
Diseases associated with growth hormone-releasing hormone receptor (GHRHR) mutations.
Martari M, Salvatori R. Martari M, et al. Prog Mol Biol Transl Sci. 2009;88:57-84. doi: 10.1016/S1877-1173(09)88003-4. Epub 2009 Oct 7. Prog Mol Biol Transl Sci. 2009. PMID: 20374725 Review.
The growth hormone (GH)-releasing hormone (GHRH) receptor (GHRHR) belongs to the G protein-coupled receptors family. It is expressed almost exclusively in the anterior pituitary, where it is necessary for somatotroph cells proliferation and for GH synthesis and secretion. …
The growth hormone (GH)-releasing hormone (GHRH) receptor (GHRHR) belongs to the G protein-coupled receptors family. It is expressed …
Pituitary miRNAs target GHRHR splice variants to regulate GH synthesis by mediating different intracellular signalling pathways.
Cheng Y, Chen T, Song J, Teng Z, Wang C, Wang S, Lu G, Feng T, Qi Q, Xi Q, Liu S, Hao L, Zhang Y. Cheng Y, et al. RNA Biol. 2020 Dec;17(12):1754-1766. doi: 10.1080/15476286.2020.1778295. Epub 2020 Jun 19. RNA Biol. 2020. PMID: 32508238 Free PMC article.
In this study, we first confirmed the existence of pig GHRHR SVs (i.e., GHRHR, GHRHR SV1 and SV2) and demonstrated the inhibitory effects of critical pituitary miRNAs (i.e., let-7e and miR-328-5p) on GH synthesis and cell proliferation of primary pituitary ce …
In this study, we first confirmed the existence of pig GHRHR SVs (i.e., GHRHR, GHRHR SV1 and SV2) and demonstrated the …
Key pituitary miRNAs mediate the expression of pig GHRHR splice variants by regulating splice factors.
Teng Z, Hao L, Yang R, Song J, Wang Z, Jiao Y, Fang J, Zheng S, Ma Z, Chen X, Liu S, Cheng Y. Teng Z, et al. Int J Biol Macromol. 2022 May 31;208:208-218. doi: 10.1016/j.ijbiomac.2022.03.070. Epub 2022 Mar 16. Int J Biol Macromol. 2022. PMID: 35306020
The growth hormone releasing hormone receptor (GHRHR) is well documented in organism growth and its alternative splicing may generate multiple functional GHRHR splice variants (SVs). ...Finally, the target site of SF3B3 on pre-GHRHR was on the Exon 12 to Exon …
The growth hormone releasing hormone receptor (GHRHR) is well documented in organism growth and its alternative splicing may generate …
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. Cohen E, et al. Hum Mutat. 2019 Nov;40(11):2033-2043. doi: 10.1002/humu.23847. Epub 2019 Aug 6. Hum Mutat. 2019. PMID: 31231873
All GHRHR coding exons and flanking intronic regions were sequenced in 312 unrelated patients with nonsyndromic IGHD. ...This study, which unveils disease-causing GHRHR mutations in 8% (24/312) of IGHD cases, identifies GHRHR as the second IGHD gene most freq …
All GHRHR coding exons and flanking intronic regions were sequenced in 312 unrelated patients with nonsyndromic IGHD. ...This study, …
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. Cong Z, et al. Proc Natl Acad Sci U S A. 2021 Oct 5;118(40):e2106606118. doi: 10.1073/pnas.2106606118. Proc Natl Acad Sci U S A. 2021. PMID: 34599099 Free PMC article.
Here, we report that a splice variant (SV1) of the human growth hormone-releasing hormone receptor (GHRHR) is capable of transducing biased signal. Differing only at the receptor N terminus, GHRHR predominantly activates G(s) while SV1 selectively couples to beta-ar …
Here, we report that a splice variant (SV1) of the human growth hormone-releasing hormone receptor (GHRHR) is capable of transducing …
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. Birla S, et al. Growth Horm IGF Res. 2016 Aug;29:50-56. doi: 10.1016/j.ghir.2016.04.001. Epub 2016 Apr 16. Growth Horm IGF Res. 2016. PMID: 27114065
CONCLUSIONS: GHRHR contributed more to IGHD in our patients which confirmed that GHRHR should be screened first before GH1 in our population. Identification of GH1 and GHRHR variations helped in defining our mutational spectrum which will play a crucial role …
CONCLUSIONS: GHRHR contributed more to IGHD in our patients which confirmed that GHRHR should be screened first before GH1 in …
Novel InDels of GHR, GHRH, GHRHR and Their Association with Growth Traits in Seven Chinese Sheep Breeds.
Wu M, Zhao H, Tang X, Li Q, Yi X, Liu S, Sun X. Wu M, et al. Animals (Basel). 2020 Oct 15;10(10):1883. doi: 10.3390/ani10101883. Animals (Basel). 2020. PMID: 33076416 Free PMC article.
The association between GHR, GHRH, and GHRHR InDels and body size traits in seven varieties were analyzed. ...GHR-53 significantly reduced cannon girth of HS, chest of STHS and forehead width of TS. GHRHR-2 significantly reduced the body weight of LFHS. To sum up, t …
The association between GHR, GHRH, and GHRHR InDels and body size traits in seven varieties were analyzed. ...GHR-53 significantly re …
Decreased Activity of the Ghrhr and Gh Promoters Causes Dominantly Inherited GH Deficiency in Humanized GH1 Mouse Models.
Ariyasu D, Kubo E, Higa D, Shibata S, Takaoka Y, Sugimoto M, Imaizumi K, Hasegawa T, Araki K. Ariyasu D, et al. Endocrinology. 2019 Nov 1;160(11):2673-2691. doi: 10.1210/en.2019-00306. Endocrinology. 2019. PMID: 31436800
Our IGHD2 model mice exhibited growth retardation along with intact cellular architecture and mildly activated endoplasmic reticulum stress in the pituitary gland, caused by decreased GH-releasing hormone receptor (Ghrhr) and Gh gene promoter activities. Decreased Ghrhr …
Our IGHD2 model mice exhibited growth retardation along with intact cellular architecture and mildly activated endoplasmic reticulum stress …
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. Sundralingam T, et al. Growth Horm IGF Res. 2017 Oct;36:22-29. doi: 10.1016/j.ghir.2017.08.006. Epub 2017 Sep 5. Growth Horm IGF Res. 2017. PMID: 28910730
The present study was therefore carried out to identify genetic alterations in the GH1 gene and rest of the GHRHR gene in a cohort of Sri Lankan IGHD patients who tested negative for GHRHR codon 72 mutation. ...One large novel deletion of 5875 base pairs that includ …
The present study was therefore carried out to identify genetic alterations in the GH1 gene and rest of the GHRHR gene in a cohort of …
377 results