Literature DB >> 32594144

Tumoural soft tissue calcification in Down syndrome: association with heterozygous germline SAMD9 mutation and hyperactive type I interferon signaling.

Nikolaus Deigendesch1, Julia R Hirsiger2, Marc B Bigler2, Adhideb Ghosh3, Dorothee Harder4, Annaïse Jauch5, Joaquin M Espinosa6, Mike Recher5, Alexander Navarini7, Thomas Daikeler8, Christoph T Berger2,9.   

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Year:  2020        PMID： 32594144      PMCID： PMC7820359          DOI： 10.1093/rheumatology/keaa301

Source DB:  PubMed          Journal:  Rheumatology (Oxford)        ISSN： 1462-0324            Impact factor:   7.046


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  8 in total

Review 1.  Down syndrome and the complexity of genome dosage imbalance.

Authors:  Stylianos E Antonarakis
Journal:  Nat Rev Genet       Date:  2016-12-28       Impact factor: 53.242

2.  Tumoral calcinosis and mongolism. A case report.

Authors:  G J Sammarco; J T Makley
Journal:  Clin Orthop Relat Res       Date:  1973 Mar-Apr       Impact factor: 4.176

3.  A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.

Authors:  Orit Topaz; Margarita Indelman; Ilana Chefetz; Dan Geiger; Aryeh Metzker; Yoram Altschuler; Mordechai Choder; Dani Bercovich; Jouni Uitto; Reuven Bergman; Gabriele Richard; Eli Sprecher
Journal:  Am J Hum Genet       Date:  2006-08-24       Impact factor: 11.025

4.  Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis.

Authors:  Dov Hershkovitz; Yonit Gross; Sagi Nahum; Shiran Yehezkel; Ofer Sarig; Jouni Uitto; Eli Sprecher
Journal:  J Invest Dermatol       Date:  2010-12-16       Impact factor: 8.551

5.  Composition of calcifications in children with juvenile dermatomyositis: association with chronic cutaneous inflammation.

Authors:  Lauren M Pachman; Arthur Veis; Stuart Stock; Kathy Abbott; Frank Vicari; Pravin Patel; Diana Giczewski; Catherine Webb; Lyudmila Spevak; Adele L Boskey
Journal:  Arthritis Rheum       Date:  2006-10

6.  Tumoral calcinosis: a case report and review of the literature.

Authors:  S F Viegas; E B Evans; J Calhoun; S E Goodwiller
Journal:  J Hand Surg Am       Date:  1985-09       Impact factor: 2.230

7.  Basal ganglia calcification in Down's syndrome.

Authors:  S Takashima; L E Becker
Journal:  J Neurol Neurosurg Psychiatry       Date:  1985-01       Impact factor: 10.154

8.  Trisomy 21 consistently activates the interferon response.

Authors:  Kelly D Sullivan; Hannah C Lewis; Amanda A Hill; Ahwan Pandey; Leisa P Jackson; Joseph M Cabral; Keith P Smith; L Alexander Liggett; Eliana B Gomez; Matthew D Galbraith; James DeGregori; Joaquín M Espinosa
Journal:  Elife       Date:  2016-07-29       Impact factor: 8.140
  8 in total

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