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Elham Barazeghi, Per Hellman, Gunnar Westin and Peter Stålberg

mutated in various types of cancers and may have important roles in acting as tumor suppressor genes in tumorigenesis. A candidate tumor suppressor gene on chromosome 18p11.2 is protein tyrosine phosphatase, receptor type M (PTPRM or PTPµ) that regulates

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Marilena Nakaguma, Fernanda A Correa, Lucas S Santana, Anna F F Benedetti, Ricardo V Perez, Martha K P Huayllas, Mirta B Miras, Mariana F A Funari, Antonio M Lerario, Berenice B Mendonca, Luciani R S Carvalho, Alexander A L Jorge and Ivo J P Arnhold

candidate-gene approach as the main strategy to identify the genetic cause of CH ( 3 ). As this strategy considers the patient’s clinical presentation to guide the molecular investigation, genes were heterogeneously screened in most studies – the same genes

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Yao Chen and Shu-ying Fang

insulin resistance ( 11 ). Current studies of the genetics of PCOS mainly concentrate on multiple candidate genes, benefiting from the advances in technology including the completed HapMap project and genome-wide scans. Candidate genes are usually chosen

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Ishita Gupta, Allal Ouhtit, Adil Al-Ajmi, Syed Gauhar A Rizvi, Hamad Al-Riyami, Marwa Al-Riyami and Yahya Tamimi

the onset of breast cancer either independently or in association with BRCA1/2 , such as the role played by genetic modifiers ( 22 ) that could represent useful diagnostic markers or targets for therapeutic purposes. One potential candidate gene

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Elena Galazzi, Paolo Duminuco, Mirella Moro, Fabiana Guizzardi, Nicoletta Marazzi, Alessandro Sartorio, Sabrina Avignone, Marco Bonomi, Luca Persani and Maria Teresa Bonati

normosmic IHH (nIHH), while brain/pituitary malformations were recurrently found in affected patients. Since no variants in candidate genes for HH or hypopituitarism were found, these features can be considered part of the TBX3 loss

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Luca Persani, Biagio Cangiano and Marco Bonomi

1 ). Table 1 Candidate genes for inherited CeH forms and related phenotypes. Gene OMIM Inheritance Phenotype Isolated CeH   TSHβ 188540 AR Neonatal onset with low TSH, high aGSU and normal PRL circulating

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Peng Fan, Chao-Xia Lu, Di Zhang, Kun-Qi Yang, Pei-Pei Lu, Ying Zhang, Xu Meng, Su-Fang Hao, Fang Luo, Ya-Xin Liu, Hui-Min Zhang, Lei Song, Jun Cai, Xue Zhang and Xian-Liang Zhou

as severe hypertension with early penetrance, hypokalemia, decreased plasma concentration of renin and aldosterone and metabolic alkalosis. Mutations of the epithelial sodium channel (ENaC) genes are capable of increasing Na + reabsorption in the

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Ya-Fen Hu, Lin Hua, Xiu Tuo, Ting-Ting Shi, Yi-Lin Yang, Yun-Fu Liu, Zhong-Yu Yan and Zhong Xin

Background: The pathogenesis underlying the alterations of orbital architecture in Graves’ orbitopathy (GO) is not yet fully understood. The present study aimed to investigate the association of DNA methylation in peripheral blood and orbital volumetry in Chinese patients with GO.

Methods: A total of 35 GO subjects (70 orbits) were subjected to computed tomography (CT) scan. The total cross-sectional area of the extraocular muscles (orbital muscles, OM), total orbit area (TOA), and the exophthalmometry were measured, and OM/TOA ratio was calculated. Targeted bisulfite sequencing was performed on seven candidate genes.

Results: No significant correlation was established between the DNA methylation levels of these genes and exophthalmometry. The MBP methylation level was found to be correlated with OM/TOA ratio (P<0.05). Multiple linear regression analysis on parameters, including age, sex, TRAb, duration of GO, and DNA methylation levels of seven genes with OM/TOA ratio confirmed that MBP and OM/TOA ratio had a significant correlation (P<0.05). The partial least squares analysis showed that the top three genes with the highest loadings were MBP, BOLL, and BECN1, and OM/TOA ratio affected the DNA methylation block than exophthalmometry.

Conclusions: This study provided preliminary evidence that MBP is a potential gene associated with OM enlargement in GO patients according to the combination of DNA methylation sequencing and orbital CT measurement.

Open access

K L Gatford, G K Heinemann, S D Thompson, J V Zhang, S Buckberry, J A Owens, G A Dekker, C T Roberts and on behalf of the SCOPE Consortium

variation also impacts the IGF axis and circulating IGF1 and IGF2 differ between individuals according to their genotype at single-nucleotide polymorphisms (SNPs) in the genes for IGF1 , IGF2 and the IGF1 receptor ( IGF1R ). Within the IGF1 locus, rs

Open access

Fernanda A Correa, Ericka B Trarbach, Cintia Tusset, Ana Claudia Latronico, Luciana R Montenegro, Luciani R Carvalho, Marcela M Franca, Aline P Otto, Everlayny F Costalonga, Vinicius N Brito, Ana Paula Abreu, Mirian Y Nishi, Alexander A L Jorge, Ivo J P Arnhold, Yisrael Sidis, Nelly Pitteloud and Berenice B Mendonca

genes in the aetiology of hypopituitarism. Subjects and methods Selection of patients We studied 156 Brazilian patients with CPHD recruited consecutively from the Hospital das Clinicas, University of Sao Paulo Medical School after approval of the ethical