Literature DB >> 12946874

Genetic basis of hypothyroidism: recent advances, gaps and strategies for future research.

José C Moreno1, Jan J M de Vijlder, Thomas Vulsma, Carrie Ris-Stalpers.   

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Year:  2003        PMID： 12946874     DOI： 10.1016/s1043-2760(03)00137-1

Source DB:  PubMed          Journal:  Trends Endocrinol Metab        ISSN： 1043-2760            Impact factor:   12.015


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  7 in total

1.  Single newborn screen or routine second screening for primary congenital hypothyroidism.

Authors:  Stuart K Shapira; Cynthia F Hinton; Patrice K Held; Elizabeth Jones; W Harry Hannon; Jelili Ojodu
Journal:  Mol Genet Metab       Date:  2015-08-11       Impact factor: 4.797

Review 2.  Enzymatic Halogenation and Dehalogenation Reactions: Pervasive and Mechanistically Diverse.

Authors:  Vinayak Agarwal; Zachary D Miles; Jaclyn M Winter; Alessandra S Eustáquio; Abrahim A El Gamal; Bradley S Moore
Journal:  Chem Rev       Date:  2017-01-20       Impact factor: 60.622

3.  Binding of thyroglobulin (Tg) to the low-density lipoprotein receptor-associated protein (RAP) during the biosynthetic pathway prevents premature Tg interactions with sortilin.

Authors:  R Botta; S Lisi; G Rotondo Dottore; P Vitti; M Marinò
Journal:  J Endocrinol Invest       Date:  2017-04-05       Impact factor: 4.256

4.  Hearing impairment in hypothyroid dwarf mice caused by mutations of the thyroid peroxidase gene.

Authors:  Kenneth R Johnson; Leona H Gagnon; Chantal M Longo-Guess; Belinda S Harris; Bo Chang
Journal:  J Assoc Res Otolaryngol       Date:  2013-12-03

5.  Intracellular retention of thyroglobulin in the absence of the low-density lipoprotein receptor-associated protein (RAP) is likely due to premature binding to megalin in the biosynthetic pathway.

Authors:  S Lisi; R Botta; G Rotondo Dottore; M Leo; F Latrofa; P Vitti; M Marinò
Journal:  J Endocrinol Invest       Date:  2016-04-19       Impact factor: 4.256

6.  Defective protein folding and intracellular retention of thyroglobulin-R19K mutant as a cause of human congenital goiter.

Authors:  Paul S Kim; Jaemin Lee; Piyanuch Jongsamak; Shekar Menon; Bailing Li; Shaikh A Hossain; Jin-Ho Bae; Bhinyo Panijpan; Peter Arvan
Journal:  Mol Endocrinol       Date:  2007-10-04

7.  Genotype-phenotype correlations of dyshormonogenetic goiter in children and adolescents from South India.

Authors:  Bangaraiah Gari Ramesh; Panchangam Ramakanth Bhargav; Bangaraiah Gari Rajesh; Nangedda Vimala Devi; Rajagopalan Vijayaraghavan; Bhongir Aparna Varma
Journal:  Indian J Endocrinol Metab       Date:  2016 Nov-Dec
  7 in total

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