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Congenital hyperinsulinism: recent updates on molecular mechanisms, diagnosis and management.
Giri D, Hawton K, Senniappan S. Giri D, et al. J Pediatr Endocrinol Metab. 2021 Sep 21;35(3):279-296. doi: 10.1515/jpem-2021-0369. Print 2022 Mar 28. J Pediatr Endocrinol Metab. 2021. PMID: 34547194 Review.
Mutations in 16 different key genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A, HNF1A, HK1, KCNQ1, CACNA1D, FOXA2, EIF2S3, PGM1 and PMM2) that are involved in regulating the insulin secretion from pancreatic beta-cells have been described to be responsible for …
Mutations in 16 different key genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A, HNF1A, HK1, KCNQ1, CACNA1D, FOXA2, EIF2S3 …
Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism.
Zhang W, Sang YM. Zhang W, et al. Orphanet J Rare Dis. 2021 Nov 4;16(1):467. doi: 10.1186/s13023-021-02088-6. Orphanet J Rare Dis. 2021. PMID: 34736508 Free PMC article. Review.
Adenosine triphosphate-sensitive potassium channel hyperinsulinism (KATP-HI) is the most common and most severe subtype, accounting for 40-50% of CHI cases. Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism (SCHAD-HI) is a rare …
Adenosine triphosphate-sensitive potassium channel hyperinsulinism (KATP-HI) is the most common and most severe subtype, accounting for 40-5 …
Diagnosis and management of hyperinsulinaemic hypoglycaemia.
Galcheva S, Al-Khawaga S, Hussain K. Galcheva S, et al. Best Pract Res Clin Endocrinol Metab. 2018 Aug;32(4):551-573. doi: 10.1016/j.beem.2018.05.014. Epub 2018 Jun 6. Best Pract Res Clin Endocrinol Metab. 2018. PMID: 30086874 Review.
Recent advances in genetics have linked congenital HH to mutations in 14 different genes that play a key role in regulating insulin secretion (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A, HNF1A, HK1, PGM1, PPM2, CACNA1D, FOXA2). ...
Recent advances in genetics have linked congenital HH to mutations in 14 different genes that play a key role in regulating insulin secretio …
Congenital hyperinsulinism in Gran Canaria, Canary Isles.
Nóvoa-Medina Y, Domínguez García A, Quinteiro González S, García Cruz LM, Santana Rodríguez A. Nóvoa-Medina Y, et al. An Pediatr (Engl Ed). 2021 Aug;95(2):93-100. doi: 10.1016/j.anpede.2020.08.006. Epub 2021 Jul 10. An Pediatr (Engl Ed). 2021. PMID: 34253504 Free article.
Pathogenic mutations in the ABCC8 and KCNJ11 genes are the most frequent cause, although its appearance also been associated to mutations in other genes (GCK, GLUD1, HADH, HNF1A, HNF4A, SLC16A1, UCP2, HK1), and with different syndromes. ...Genetic analysis included screeni …
Pathogenic mutations in the ABCC8 and KCNJ11 genes are the most frequent cause, although its appearance also been associated to mutations in …
Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro.
Velasco K, St-Louis JL, Hovland HN, Thompson N, Ottesen Å, Choi MH, Pedersen L, Njølstad PR, Arnesen T, Fjeld K, Aukrust I, Myklebust LM, Molven A. Velasco K, et al. J Inherit Metab Dis. 2021 Jan;44(1):240-252. doi: 10.1002/jimd.12309. Epub 2020 Sep 28. J Inherit Metab Dis. 2021. PMID: 32876354
Short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD), encoded by the HADH gene, is a ubiquitously expressed mitochondrial enzyme involved in fatty acid oxidation. ...To avoid interactions with endogenously produced SCHAD protein, we assessed protein stability, …
Short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD), encoded by the HADH gene, is a ubiquitously expressed mitochondrial enzym …
Decreased expression of HADH is related to poor prognosis and immune infiltration in kidney renal clear cell carcinoma.
Jiang H, Chen H, Wan P, Chen N. Jiang H, et al. Genomics. 2021 Nov;113(6):3556-3564. doi: 10.1016/j.ygeno.2021.08.008. Epub 2021 Aug 13. Genomics. 2021. PMID: 34391866 Free article.
The expression of HADH was significantly lower in KIRC tissue than in normal tissue. ...The differential expression of HADH was validated at the protein level by immunohistochemistry. ...
The expression of HADH was significantly lower in KIRC tissue than in normal tissue. ...The differential expression of HADH wa …
Construction and validation of a prognostic model for colon adenocarcinoma based on bile acid metabolism-related genes.
Luo Q, Zhou P, Chang S, Huang Z, Zeng X. Luo Q, et al. Sci Rep. 2023 Aug 5;13(1):12728. doi: 10.1038/s41598-023-40020-z. Sci Rep. 2023. PMID: 37543674 Free PMC article.
Relying on the LASSO logistic regression algorithm, we constructed a model of bile acid risk score, comprising 12 genes: CPT2, SLCO1A2, CD36, ACOX1, CDKN2A, HADH, GABRD, LEP, TIMP1, MAT1A, SLC6A15 and PPARGC1A. This model was validated in the GEO-COAD set. ...We identified …
Relying on the LASSO logistic regression algorithm, we constructed a model of bile acid risk score, comprising 12 genes: CPT2, SLCO1A2, CD36 …
Hypothalamic-pituitary-adrenal axis activation and glucocorticoid-responsive gene expression in skeletal muscle and liver of Apc mice.
Martin A, Castells J, Allibert V, Emerit A, Zolotoff C, Cardot-Ruffino V, Gallot YS, Vernus B, Chauvet V, Bartholin L, Schaeffer L, Durieux AC, Hourdé C, Favier FB, Mazelin L, Freyssenet D. Martin A, et al. J Cachexia Sarcopenia Muscle. 2022 Jun;13(3):1686-1703. doi: 10.1002/jcsm.12939. Epub 2022 Mar 11. J Cachexia Sarcopenia Muscle. 2022. PMID: 35277933 Free PMC article.

RESULTS: Twenty-three-week-old Apc mice recapitulated important features of cancer cachexia including body weight loss (-16%, P < 0.0001), muscle atrophy (gastrocnemius muscle: -53%, P < 0.0001), and weakness (-50% in tibialis anterior muscle force, P < 0.0001), increase

RESULTS: Twenty-three-week-old Apc mice recapitulated important features of cancer cachexia including body weight loss (-16%, P < 0.0001)

Investigating Genetic Mutations in a Large Cohort of Iranian Patients with Congenital Hyperinsulinism.
Razzaghy-Azar M, Saeedi S, Dayani SB, Enayati S, Abbasi F, Hashemian S, Eshraghi P, Karimdadi S, Tajdini P, Vakili R, Amoli MM, Yaghootkar H. Razzaghy-Azar M, et al. J Clin Res Pediatr Endocrinol. 2022 Mar 3;14(1):87-95. doi: 10.4274/jcrpe.galenos.2021.2021.0071. Epub 2021 Dec 20. J Clin Res Pediatr Endocrinol. 2022. PMID: 34927408 Free PMC article.
Among 24 patients with identified genetic mutations, 17 (71%) had a mutation in ABCC8, 3 (12%) in KCNJ11, 3 (12%) in HADH, and 1 patient had a mutation in KMT2D. These included five novel mutations in ABCC8, KCNJ11, and KMT2D. CONCLUSION: This is the biggest genetic study …
Among 24 patients with identified genetic mutations, 17 (71%) had a mutation in ABCC8, 3 (12%) in KCNJ11, 3 (12%) in HADH, and 1 pati …
Epigenetic regulation of diabetogenic adipose morphology.
Kerr AG, Sinha I, Dadvar S, Arner P, Dahlman I. Kerr AG, et al. Mol Metab. 2019 Jul;25:159-167. doi: 10.1016/j.molmet.2019.04.009. Epub 2019 Apr 17. Mol Metab. 2019. PMID: 31031182 Free PMC article.
These genes were over-represented in gene sets relevant to WAT hypertrophy, such as insulin resistance, lipolysis, extracellular matrix organization, and innate immunity. siRNA knockdown of ADH1B, AZGP1, C14orf180, GYG2, HADH, PRKAR2B, PFKFB3, and AQP7 influenced lipid sto …
These genes were over-represented in gene sets relevant to WAT hypertrophy, such as insulin resistance, lipolysis, extracellular matrix orga …
36 results