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96 Possible Causes for Mutation in the INS Gene

  • Insulin Resistance

    Abstract Elective surgery causes a marked, transient reduction in insulin sensitivity. The degree of the reduction is related to the magnitude of the operation. The type and duration of surgery performed, perioperative blood loss, and also the degree of postoperative insulin resistance have significant influences[…][doi.org]

  • Diabetes Mellitus

    Diabetes mellitus. 2019;22(2):165-169 227 (Rus) A clinical case of neonatal diabetes caused by INS gene mutation Atanesyan R.A., Uglova T.A., Vdovina T.M., Klimov L.Y., Kostanova[endojournals.ru] Etiology Mutations in 10 genes have been associated with PNDM: KCNJ11 (34% of cases), ABCC8 (24%), INS (13%), GCK (4%), PDX1 ( GATA6, PTF1A, HNF1B, RFX6 and MNX1.[orpha.net] To date, 11 MODY subtypes have been identified, involving mutations in the following genes [46, 47] : HNF-4-alpha Glucokinase gene HNF-1-alpha IPF-1 HNF-1-beta NEUROD1 KLF11[emedicine.medscape.com]

  • Hypercholesterolemia

    Familial Hypercholesterolemia in Utah Kindred with Novel 2412-6 Ins G Mutations in Exon 17 of the LDL Receptor Gene. Japanese Heart Journal 40 , 435–441 (1999). 29.[nature.com]

  • Diabetes Mellitus Type 2

    To date, 11 MODY subtypes have been identified, involving mutations in the following genes [46, 47] : HNF-4-alpha Glucokinase gene HNF-1-alpha IPF-1 HNF-1-beta NEUROD1 KLF11[emedicine.medscape.com] [48] PAX4 [50] INS Most of the MODY subtypes are associated with diabetes only; however, MODY type 5 is known to be associated with renal cysts, [52] and MODY type 8 is associated[emedicine.medscape.com]

  • Heterozygous Familial Hypercholesterolemia

    Familial Hypercholesterolemia in Utah Kindred with Novel 2412-6 Ins G Mutations in Exon 17 of the LDL Receptor Gene. Japanese Heart Journal 40 , 435–441 (1999). 29.[nature.com]

  • Familial Hypercholesterolemia

    WILLIAMS, Familial Hypercholesterolemia in Utah Kindred with Novel 2412-6 Ins G Mutations in Exon 17 of the LDL Receptor Gene, Japanese Heart Journal, 10.1536/jhj.40.435,[doi.org]

  • Maturity-Onset Diabetes of the Young

    We aimed to describe in detail two MODY families with INS mutations. The INS gene was screened by direct sequencing.[ncbi.nlm.nih.gov] No mutations were detected in the HNF1A and INS genes.[ncbi.nlm.nih.gov] Insulin gene (INS) mutations cause a rare form of maturity-onset diabetes of the young (MODY), a heterogeneous group of autosomal dominant diabetes with at least 14 confirmed[ncbi.nlm.nih.gov]

  • Autonomic Neuropathy

    They identified a homozygous 1134-1135 ins T mutation, resulting in a frameshift, and the subsequent premature stop codon at residue 378.[ncbi.nlm.nih.gov] Abstract The authors report a Japanese patient with hereditary sensory and autonomic neuropathy type 2 (HSAN2) who has a new mutation of the HSN2 gene.[ncbi.nlm.nih.gov] These observations support the hypothesis that HSN2 is a causative gene for HSAN2.[ncbi.nlm.nih.gov]

  • Epilepsy

    Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase. Hum. Mol. Genet. 14, 1077–1086 (2005). 32.[doi.org] Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase. Hum. Mol.[ncbi.nlm.nih.gov] Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat.[doi.org]

  • DEND Syndrome

    Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood[ghr.nlm.nih.gov] The most common cause of PNDM results from Mutations in the insulin gene ( INS ) or Mutations in the K-ATP channel genes ( KCNJ11 and ABCC8 ) [2].[diapedia.org] Edghill EL et al. (2008) Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of[moldiag.com]

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