325 related articles for article (PubMed ID: 27840822)
1. Computational Analysis of Damaging Single-Nucleotide Polymorphisms and Their Structural and Functional Impact on the Insulin Receptor.
Mahmud Z; Malik SU; Ahmed J; Azad AK
Biomed Res Int; 2016; 2016():2023803. PubMed ID: 27840822
[TBL] [Abstract][Full Text] [Related]
2. Functional characterization of insulin receptor gene mutations contributing to Rabson-Mendenhall syndrome - phenotypic heterogeneity of insulin receptor gene mutations.
Jiang S; Fang Q; Zhang F; Wan H; Zhang R; Wang C; Bao Y; Zhang L; Ma X; Lu J; Gao F; Xiang K; Jia W
Endocr J; 2011; 58(11):931-40. PubMed ID: 21869538
[TBL] [Abstract][Full Text] [Related]
3. Molecular mechanisms of insulin resistance in 2 cases of primary insulin receptor defect-associated diseases.
Tsuji-Hosokawa A; Takasawa K; Nomura R; Miyakawa Y; Numakura C; Hijikata A; Shirai T; Ogawa Y; Kashimada K; Morio T
Pediatr Diabetes; 2017 Dec; 18(8):917-924. PubMed ID: 28181734
[TBL] [Abstract][Full Text] [Related]
4. A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome.
Ben Abdelaziz R; Ben Chehida A; Azzouz H; Boudabbous H; Lascols O; Ben Turkia H; Tebib N
Eur J Med Genet; 2016 Jan; 59(1):16-9. PubMed ID: 26691667
[TBL] [Abstract][Full Text] [Related]
5. Clinical and Functional Characterization of Novel INSR Variants in Two Families With Severe Insulin Resistance Syndrome.
Zhou Q; Yu J; Yuan X; Wang C; Zhu Z; Zhang A; Gu W
Front Endocrinol (Lausanne); 2021; 12():606964. PubMed ID: 33995269
[TBL] [Abstract][Full Text] [Related]
6. Identification of a Novel Homozygous INSR Variant in a Patient with Rabson-Mendenhall Syndrome from the United Arab Emirates.
Bastaki F; Nair P; Mohamed M; Khadora MM; Saif F; Tawfiq N; Al-Ali MT; Hamzeh AR
Horm Res Paediatr; 2017; 87(1):64-68. PubMed ID: 27326825
[TBL] [Abstract][Full Text] [Related]
7. Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?
Grasso V; Colombo C; Favalli V; Galderisi A; Rabbone I; Gombos S; Bonora E; Massa O; Meschi F; Cerutti F; Iafusco D; Bonfanti R; Monciotti C; Barbetti F
Acta Diabetol; 2013 Dec; 50(6):951-7. PubMed ID: 23824322
[TBL] [Abstract][Full Text] [Related]
8. Identification and Functional Characterization of Two Novel Nonsense Mutations in the β-Subunit of INSR That Cause Severe Insulin Resistance Syndrome.
Choi JH; Kang M; Kim JH; Cho J; Kim GH; Yoo HW
Horm Res Paediatr; 2015; 84(2):73-8. PubMed ID: 26160152
[TBL] [Abstract][Full Text] [Related]
9. One Novel 2.43Kb Deletion and One Single Nucleotide Mutation of the
Chen X; Wang H; Wu B; Dong X; Liu B; Chen H; Lu Y; Zhou W; Yang L
J Clin Res Pediatr Endocrinol; 2018 Jun; 10(2):183-187. PubMed ID: 29082893
[TBL] [Abstract][Full Text] [Related]
10. Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.
Hosoe J; Kadowaki H; Miya F; Aizu K; Kawamura T; Miyata I; Satomura K; Ito T; Hara K; Tanaka M; Ishiura H; Tsuji S; Suzuki K; Takakura M; Boroevich KA; Tsunoda T; Yamauchi T; Shojima N; Kadowaki T
Diabetes; 2017 Oct; 66(10):2713-2723. PubMed ID: 28765322
[TBL] [Abstract][Full Text] [Related]
11. In-Silico Analyses of Nonsynonymous Variants in the BRCA1 Gene.
Arshad S; Ishaque I; Mumtaz S; Rashid MU; Malkani N
Biochem Genet; 2021 Dec; 59(6):1506-1526. PubMed ID: 33945048
[TBL] [Abstract][Full Text] [Related]
12. First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene.
Siala-Sahnoun O; Dhieb D; Ben Thabet A; Hmida N; Belguith N; Fakhfakh F
Mol Biol Rep; 2016 Mar; 43(3):165-73. PubMed ID: 26874853
[TBL] [Abstract][Full Text] [Related]
13. Leprechaunism (Donohue syndrome): a case bearing novel compound heterozygous mutations in the insulin receptor gene.
Kawashima Y; Nishimura R; Utsunomiya A; Kagawa R; Funata H; Fujimoto M; Hanaki K; Kanzaki S
Endocr J; 2013; 60(1):107-12. PubMed ID: 22972224
[TBL] [Abstract][Full Text] [Related]
14. [A case of Rabson-Mendenhall syndrome].
Ma L; Wang J; Fang YX
Zhonghua Er Ke Za Zhi; 2013 Jul; 51(7):545-7. PubMed ID: 24267141
[No Abstract] [Full Text] [Related]
15. Screening and insilico analysis of deleterious nsSNPs (missense) in human CSF3 for their effects on protein structure, stability and function.
Guttula PK; Chandrasekaran G; Gupta MK
Comput Biol Chem; 2019 Oct; 82():57-64. PubMed ID: 31272062
[TBL] [Abstract][Full Text] [Related]
16. Impacts of Nonsynonymous Single Nucleotide Polymorphisms of Adiponectin Receptor 1 Gene on Corresponding Protein Stability: A Computational Approach.
Saleh MA; Solayman M; Paul S; Saha M; Khalil MI; Gan SH
Biomed Res Int; 2016; 2016():9142190. PubMed ID: 27294143
[TBL] [Abstract][Full Text] [Related]
17. Identification of functional SNPs in BARD1 gene and in silico analysis of damaging SNPs: based on data procured from dbSNP database.
Alshatwi AA; Hasan TN; Syed NA; Shafi G; Grace BL
PLoS One; 2012; 7(10):e43939. PubMed ID: 23056176
[TBL] [Abstract][Full Text] [Related]
18. Severe progressive obstructive cardiomyopathy and renal tubular dysfunction in Donohue syndrome with decreased insulin receptor autophosphorylation due to a novel INSR mutation.
Hovnik T; Bratanič N; Podkrajšek KT; Kovač J; Paro D; Podnar T; Bratina N; Battelino T
Eur J Pediatr; 2013 Aug; 172(8):1125-9. PubMed ID: 23229189
[TBL] [Abstract][Full Text] [Related]
19. A bioinformatics approach for the phenotype prediction of nonsynonymous single nucleotide polymorphisms in human cytochromes P450.
Wang LL; Li Y; Zhou SF
Drug Metab Dispos; 2009 May; 37(5):977-91. PubMed ID: 19204079
[TBL] [Abstract][Full Text] [Related]
20. Identification of a novel insulin receptor gene heterozygous mutation in a patient with type A insulin resistance syndrome.
Domínguez-García A; Martínez R; Urrutia I; Garin I; Castaño L
J Pediatr Endocrinol Metab; 2014 May; 27(5-6):561-4. PubMed ID: 24468607
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
