Literature DB >> 7853378

High CTG repeat number in nodular thyroid tissue from a myotonic dystrophy patient.

C Daumerie1, N Lannoy, J P Squifflet, G Verellen, C Verellen-Dumoulin.   

Abstract

CTG triplet expansion was studied in lymphocytes and thyroid tissue in a patient with myotonic dystrophy (DM) and associated thyroid nodular disease. An approximately 7 fold larger amplification was found in abnormal thyroid tissue compared to lymphocytes, suggesting that anomalies in the putative DM kinase gene might contribute to thyroid dysfunction.

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Year:  1994        PMID： 7853378      PMCID： PMC1016667          DOI： 10.1136/jmg.31.11.891

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  3 in total

1.  Thyroid function in patients with myotonic dystrophy.

Authors:  H Fukazawa; T Sakurada; K Yoshida; N Kaise; K Kaise; T Nomura; M Yamamoto; S Saito; S Takase; K Yoshinaga
Journal:  Clin Endocrinol (Oxf)       Date:  1990-04       Impact factor: 3.478

2.  Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

Authors:  J D Brook; M E McCurrach; H G Harley; A J Buckler; D Church; H Aburatani; K Hunter; V P Stanton; J P Thirion; T Hudson
Journal:  Cell       Date:  1992-02-21       Impact factor: 41.582

3.  Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy.

Authors:  M Anvret; G Ahlberg; U Grandell; B Hedberg; K Johnson; L Edström
Journal:  Hum Mol Genet       Date:  1993-09       Impact factor: 6.150
  3 in total
  4 in total

1.  Endocrine function in 97 patients with myotonic dystrophy type 1.

Authors:  M C Ørngreen; P Arlien-Søborg; M Duno; J M Hertz; J Vissing
Journal:  J Neurol       Date:  2012-02-17       Impact factor: 4.849

2.  Increased cancer risks in myotonic dystrophy.

Authors:  Aung Ko Win; Promilla G Perattur; Jose S Pulido; Christine M Pulido; Noralane M Lindor
Journal:  Mayo Clin Proc       Date:  2012-01-10       Impact factor: 7.616

3.  Hormonal and metabolic gender differences in a cohort of myotonic dystrophy type 1 subjects: a retrospective, case-control study.

Authors:  M Spaziani; A Semeraro; E Bucci; F Rossi; M Garibaldi; M A Papassifachis; C Pozza; A Anzuini; A Lenzi; G Antonini; A F Radicioni
Journal:  J Endocrinol Invest       Date:  2019-11-30       Impact factor: 4.256

4.  Primary Hyperparathyroidism and Hyperthyroidism in a Patient with Myotonic Dystrophy: A Case Report and Review of the Literature.

Authors:  Yosra Cherif; Baha Zantour; Wafa Alaya; Olfa Berriche; Samia Younes; Mohamed Habib Sfar
Journal:  Case Rep Endocrinol       Date:  2015-06-15
  4 in total

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