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3.10. DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis

B Rivera , J Nadaf , S Fahiminiya , M Apellaniz-Ruiz , A Saskin , AS Chong , S Sharma , R Wagener , T Revil , V Condello , Z Harra , N Hamel , N Sabbaghian , K Muchantef , C Thomas , L de Kock , MN Hebert-Blouin , AV Bassenden , H Rabenstein , O Mete , R Paschke , MP Pusztaszeri , W Paulus , A Berghuis , J Ragoussis , YE Nikiforov , R Siebert , S Albrecht , R Turcotte , M Hasselblatt , MR Fabian , WD Foulkes

To read the full abstract: J Clin Invest. 2020;130:14791490.This detailed genetic and molecular analysis of a three-generation family reveals a new form of autosomal dominant tumor susceptibility syndrome entitled familial multinodular goiter (MNG) with schwannomatosis. Biallelic alterations of the DGCR8 gene were found in all affected patients: First, all patients harbored the same heterozygous germline mutation p.E518K. Secondly...

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ey0018.14-14 | (1) | ESPEYB18

14.14. The impact of sex on gene expression across human tissues

Oliva Meritxell , Munoz-Aguirre Manuel , Kim-Hellmuth Sarah , Wucher Valentin , Gewirtz Ariel DH , Cotter Daniel J , Parsana Princy , Kasela Silva , Balliu Brunilda , Vinuela Ana , Castel Stephane E , Mohammadi Pejman , Aguet Francois , Zou Yuxin , Khramtsova Ekaterina A , Skol Andrew D , Garrido-Martin Diego , Reverter Ferran , Brown Andrew , Evans Patrick , Gamazon Eric R , Payne Anthony , Bonazzola Rodrigo , Barbeira Alvaro N , Hamel Andrew R , Martinez-Perez Angel , Soria Jose Manuel , GTEx Consortium , Pierce Brandon L , Stephens Matthew , Eskin Eleazar , Dermitzakis Emmanouil T , Segre Ayellet V , Im Hae Kyung , Engelhardt Barbara E , Ardlie Kristin G , Montgomery Stephen B , Battle Alexis J , Lappalainen Tuuli , Guigo Roderic , Stranger Barbara E

Science 2020 Sep; 369(6509): eaba3066https://bit.ly/3wMzM8xBy integrating sex-specific Genotype-Tissue Expression (GTEx) data with gene function and transcription factor binding annotations, these authors describe mechanisms contributing to sex differences in the human transcriptome.Many complex human traits and diseases exhibit sex-specific characteristics. These sex differences have b...

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ESPE Yearbook of Paediatric Endocrinology

3.10. DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis

14.14. The impact of sex on gene expression across human tissues

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