Cargando…

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

Severe insulin receptor gene (INSR)-related insulin resistance syndromes (SIR) include Donohue syndrome (DS), Rabson–Mendenhall syndrome (RMS), and type A insulin resistance. The incidence of DS is about 1 in 4 million births. We identified novel INSR mutations (c.2246delG and c.2646 + 5G > A) in...

Descripción completa

Detalles Bibliográficos
Autores principales:	Yu, Lu, Yu, Fang, Ma, Zongrui, Lu, Huilin, Luo, Jian, Sun, Ting, Liu, Qin, Gan, Shenglian
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2022
Materias:	4300
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9750703/ https://www.ncbi.nlm.nih.gov/pubmed/36626508 http://dx.doi.org/10.1097/MD.0000000000032266

Ejemplares similares

Recurrent pancreatitis and sepsis in glycogen storage disease type Ia caused by complex heterozygous mutations in 2 sisters: Case report
por: Liu, Qin, et al.
Publicado: (2022)

Transcriptional Regulation of INSR, the Insulin Receptor Gene
por: Payankaulam, Sandhya, et al.
Publicado: (2019)

Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations
por: Simpkin, Arabella, et al.
Publicado: (2014)

Monogenic diabetes due to an INSR mutation in a child with severe insulin resistance
por: Sanderson, Elaine E, et al.
Publicado: (2021)

Tumor suppressor p53 regulates insulin receptor (INSR) gene expression via direct binding to the INSR promoter
por: Sarfstein, Rive, et al.
Publicado: (2020)

Clinical and Functional Characterization of Novel INSR Variants in Two Families With Severe Insulin Resistance Syndrome
por: Zhou, Qiaoli, et al.
Publicado: (2021)

A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans
por: Tuhan, Hale, et al.
Publicado: (2017)

Syndrome of Congenital Insulin Resistance Caused by a Novel INSR Gene Mutation
por: Rojek, Aleksandra, et al.
Publicado: (2023)

Family association study between INSR gene polymorphisms and PCOS in Han Chinese
por: Xu, Xinghua, et al.
Publicado: (2011)

Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene()
por: Ardon, O., et al.
Publicado: (2014)

The Role of INSR & Diabetes in Polycystic Ovarian Syndrome
por: KHAZAMIPOUR, Afrouz, et al.
Publicado: (2018)

Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series
por: Sethi, Aashish, et al.
Publicado: (2020)

INSR gene variation is associated with decreased insulin sensitivity in Iraqi women with PCOs
por: T. Mutib, Manal, et al.
Publicado: (2014)

A New Mutation of the INSR Gene in a 13-Year-Old Girl with Severe Insulin Resistance Syndrome in China
por: Jin, Jing, et al.
Publicado: (2021)

Insulin–InsR signaling drives multipotent progenitor differentiation toward lymphoid lineages
por: Xia, Pengyan, et al.
Publicado: (2015)

RS1799817 in INSR associates with susceptibility to polycystic ovary syndrome
por: Daghestani, Maha H.
Publicado: (2020)

CircINSR Regulates Fetal Bovine Muscle and Fat Development
por: Shen, Xuemei, et al.
Publicado: (2021)

The Association between Polymorphism of INSR and Polycystic Ovary Syndrome: A Meta-Analysis
por: Feng, Chun, et al.
Publicado: (2015)

Identifying the insulin resistance index in nondiabetic Chinese subjects
por: Tuo, Xiu, et al.
Publicado: (2020)

Correlation Study on the Expression of INSR, IRS-1, and PD-L1 in Nonsmall Cell Lung Cancer
por: Ting, Ma, et al.
Publicado: (2022)

INSR and ISR‑1 gene polymorphisms and the susceptibility of essential hypertension: A meta‑analysis
por: Wang, Yan, et al.
Publicado: (2023)

An Association Study between INSR/NsiI (rs2059806) and INSR/PmlI (rs1799817) SNPs in Women with Polycystic Ovary Syndrome from West Azerbaijan Province, Iran
por: Bagheri, Morteza, et al.
Publicado: (2015)

Beta-cell specific Insr deletion promotes insulin hypersecretion and improves glucose tolerance prior to global insulin resistance
por: Skovsø, Søs, et al.
Publicado: (2022)

Early-Life Exposure to the Chinese Famine Is Associated with Higher Methylation Level in the INSR Gene in Later Adulthood
por: Wang, Zhenghe, et al.
Publicado: (2019)

One Novel 2.43Kb Deletion and One Single Nucleotide Mutation of the INSR Gene in a Chinese Neonate with Rabson-Mendenhall Syndrome
por: Chen, Xiang, et al.
Publicado: (2018)

A follow-up during puberty in a Japanese girl with type A insulin resistance due to a novel mutation in INSR
por: Saito-Hakoda, Akiko, et al.
Publicado: (2018)

InsR/FoxO1 Signaling Curtails Hypothalamic POMC Neuron Number
por: Plum, Leona, et al.
Publicado: (2012)

DNA methylation of AMHRII and INSR gene is associated with the pathogenesis of Polycystic Ovary Syndrome (PCOS)
por: Zhong, Xingming, et al.
Publicado: (2021)

Insulin glargine affects the expression of Igf-1r, Insr, and Igf-1 genes in colon and liver of diabetic rats
por: Juárez-Vázquez, Clara I, et al.
Publicado: (2018)

Severe Insulin Resistance and Intrauterine Growth Deficiency Associated With Haploinsufficiency for INSR and CHN2: New Insights Into Synergistic Pathways Involved in Growth and Metabolism
por: Suliman, Sara G.I., et al.
Publicado: (2009)

Igf1R/InsR function is required for axon extension and corpus callosum formation
por: Jin, Jing, et al.
Publicado: (2019)

Polymorphism in INSR Locus Modifies Risk of Atrial Fibrillation in Patients on Thyroid Hormone Replacement Therapy
por: Soto-Pedre, Enrique, et al.
Publicado: (2021)

The roles of first phase, second phase insulin secretion, insulin resistance, and glucose effectiveness of having prediabetes in nonobese old Chinese women
por: Lu, Chieh-Hua, et al.
Publicado: (2020)

Identification of a novel mutation in pseudohypoparathyroidism type Ia in a Chinese family: A case report
por: Tang, Yuchen, et al.
Publicado: (2020)

Different RET gene mutation-induced multiple endocrine neoplasia type 2A in 3 Chinese families
por: Liu, Qiuli, et al.
Publicado: (2017)

Prevalence and Characterization of Somatic Mutations in Chinese Aldosterone-Producing Adenoma Patients
por: Wang, Baojun, et al.
Publicado: (2015)

Both IGF1R and INSR Knockdown Exert Antitumorigenic Effects in Prostate Cancer In Vitro and In Vivo
por: Ofer, Philipp, et al.
Publicado: (2015)

Bone marrow infiltrated Lnc-INSR induced suppressive immune microenvironment in pediatric acute lymphoblastic leukemia
por: Wang, Yaping, et al.
Publicado: (2018)

MicroRNA 322 Aggravates Dexamethasone-Induced Muscle Atrophy by Targeting IGF1R and INSR
por: Geng, Hongwei, et al.
Publicado: (2020)

circINSR Promotes Proliferation and Reduces Apoptosis of Embryonic Myoblasts by Sponging miR-34a
por: Shen, Xuemei, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_bes2r69iuo63s32h3dkjog2ql2