胰岛素受体（INSR）基因突变。小儿中胰岛素抵抗患病率较低。病例回顾。 - Suppr

INSR gene mutation. Insulin resistance with low prevalence in pediatrics. A case review.

作者信息

Ariza Jiménez Ana Belén, López Siguero Juan Pedro, Martínez Aedo Ollero María José, Del Pino de la Fuente Almudena, Leiva Gea Isabel

机构信息

Unidad de Gestión Clínica de Pediatría, Endocrinología Infantil, Hospital Materno infantil de Málaga, Málaga, España.

出版信息

Endocrinol Diabetes Nutr (Engl Ed). 2019 Nov;66(9):588-589. doi: 10.1016/j.endinu.2019.04.005. Epub 2019 Jun 20.

DOI:10.1016/j.endinu.2019.04.005

PMID:31229400

Abstract

摘要

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INSR gene mutation. Insulin resistance with low prevalence in pediatrics. A case review.

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Molecular mechanisms of insulin resistance in 2 cases of primary insulin receptor defect-associated diseases.

Pediatr Diabetes. 2017 Dec;18(8):917-924. doi: 10.1111/pedi.12508. Epub 2017 Feb 9.

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Arg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome.

J Pediatr Endocrinol Metab. 2016 Jun 1;29(6):753-6. doi: 10.1515/jpem-2015-0232.

Identification and Functional Characterization of Two Novel Nonsense Mutations in the β-Subunit of INSR That Cause Severe Insulin Resistance Syndrome.

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First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene.

Mol Biol Rep. 2016 Mar;43(3):165-73. doi: 10.1007/s11033-016-3951-9. Epub 2016 Feb 13.

Novel heterozygous mutations of the INSR gene in a familial case of Donohue syndrome.

Clin Chim Acta. 2017 Oct;473:26-31. doi: 10.1016/j.cca.2017.08.007. Epub 2017 Aug 10.

A novel heterozygous mutation in the insulin receptor gene presenting with type A severe insulin resistance syndrome.

J Pediatr Endocrinol Metab. 2020 May 22;33(6):809-812. doi: 10.1515/jpem-2019-0503.

INSR novel mutations identified in a Chinese family with severe INSR-related insulin resistance syndromes: A case report.

Medicine (Baltimore). 2022 Dec 9;101(49):e32266. doi: 10.1097/MD.0000000000032266.

引用本文的文献

Investigating the genetic relationship of intracranial and subcortical brain volumes with depression and other psychiatric disorders.

Imaging Neurosci (Camb). 2024 Sep 19;2. doi: 10.1162/imag_a_00291. eCollection 2024.

CAPN2 correlates with insulin resistance states in PCOS as evidenced by multi-dataset analysis.

J Ovarian Res. 2024 Apr 12;17(1):79. doi: 10.1186/s13048-024-01407-2.

A case of type A insulin resistance syndrome in a 14-year-old adolescent girl without common clinical features.

Ann Pediatr Endocrinol Metab. 2023 Dec;28(Suppl 1):S17-S19. doi: 10.6065/apem.2244106.053. Epub 2023 Feb 1.

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INSR gene mutation. Insulin resistance with low prevalence in pediatrics. A case review.

作者信息

Ariza Jiménez Ana Belén, López Siguero Juan Pedro, Martínez Aedo Ollero María José, Del Pino de la Fuente Almudena, Leiva Gea Isabel

机构信息

Unidad de Gestión Clínica de Pediatría, Endocrinología Infantil, Hospital Materno infantil de Málaga, Málaga, España.

出版信息

Endocrinol Diabetes Nutr (Engl Ed). 2019 Nov;66(9):588-589. doi: 10.1016/j.endinu.2019.04.005. Epub 2019 Jun 20.

DOI:10.1016/j.endinu.2019.04.005

PMID:31229400

Abstract

摘要

相似文献

INSR gene mutation. Insulin resistance with low prevalence in pediatrics. A case review.

Endocrinol Diabetes Nutr (Engl Ed). 2019 Nov;66(9):588-589. doi: 10.1016/j.endinu.2019.04.005. Epub 2019 Jun 20.

Molecular mechanisms of insulin resistance in 2 cases of primary insulin receptor defect-associated diseases.

Pediatr Diabetes. 2017 Dec;18(8):917-924. doi: 10.1111/pedi.12508. Epub 2017 Feb 9.

Clinical and Functional Characterization of Novel INSR Variants in Two Families With Severe Insulin Resistance Syndrome.

Front Endocrinol (Lausanne). 2021 Apr 29;12:606964. doi: 10.3389/fendo.2021.606964. eCollection 2021.

[A case of Rabson-Mendenhall syndrome].

Zhonghua Er Ke Za Zhi. 2013 Jul;51(7):545-7.

Arg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome.

J Pediatr Endocrinol Metab. 2016 Jun 1;29(6):753-6. doi: 10.1515/jpem-2015-0232.

Identification and Functional Characterization of Two Novel Nonsense Mutations in the β-Subunit of INSR That Cause Severe Insulin Resistance Syndrome.

Horm Res Paediatr. 2015;84(2):73-8. doi: 10.1159/000381624. Epub 2015 Jul 8.

First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene.

Mol Biol Rep. 2016 Mar;43(3):165-73. doi: 10.1007/s11033-016-3951-9. Epub 2016 Feb 13.

Novel heterozygous mutations of the INSR gene in a familial case of Donohue syndrome.

Clin Chim Acta. 2017 Oct;473:26-31. doi: 10.1016/j.cca.2017.08.007. Epub 2017 Aug 10.

A novel heterozygous mutation in the insulin receptor gene presenting with type A severe insulin resistance syndrome.

J Pediatr Endocrinol Metab. 2020 May 22;33(6):809-812. doi: 10.1515/jpem-2019-0503.

INSR novel mutations identified in a Chinese family with severe INSR-related insulin resistance syndromes: A case report.

Medicine (Baltimore). 2022 Dec 9;101(49):e32266. doi: 10.1097/MD.0000000000032266.

引用本文的文献

Investigating the genetic relationship of intracranial and subcortical brain volumes with depression and other psychiatric disorders.

Imaging Neurosci (Camb). 2024 Sep 19;2. doi: 10.1162/imag_a_00291. eCollection 2024.

CAPN2 correlates with insulin resistance states in PCOS as evidenced by multi-dataset analysis.

J Ovarian Res. 2024 Apr 12;17(1):79. doi: 10.1186/s13048-024-01407-2.

A case of type A insulin resistance syndrome in a 14-year-old adolescent girl without common clinical features.

Ann Pediatr Endocrinol Metab. 2023 Dec;28(Suppl 1):S17-S19. doi: 10.6065/apem.2244106.053. Epub 2023 Feb 1.

INSR gene mutation. Insulin resistance with low prevalence in pediatrics. A case review.

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INSR gene mutation. Insulin resistance with low prevalence in pediatrics. A case review.

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