Literature DB >> 4085141

A new syndrome: thrombocytopathia, muscle fatigue, asplenia, miosis, migraine, dyslexia and ichthyosis.

H Stormorken, O Sjaastad, A Langslet, I Sulg, K Egge, J Diderichsen.   

Abstract

A new multifacetted syndrome inherited as an autosomal, dominant trait is described encompassing not only two hitherto undescribed hereditary defects--thrombocytopathia and asplenia--but also muscle contractile defect, migraine-like headache, miosis, dyslexia and ichthyosis. None of these defects has so far been assigned to a specific chromosome or linkage group. Further studies on the various aspects of the syndrome are in progress.

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Year:  1985        PMID: 4085141     DOI: 10.1111/j.1399-0004.1985.tb02209.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  11 in total

1.  Biological properties of extracellular vesicles and their physiological functions.

Authors:  María Yáñez-Mó; Pia R-M Siljander; Zoraida Andreu; Apolonija Bedina Zavec; Francesc E Borràs; Edit I Buzas; Krisztina Buzas; Enriqueta Casal; Francesco Cappello; Joana Carvalho; Eva Colás; Anabela Cordeiro-da Silva; Stefano Fais; Juan M Falcon-Perez; Irene M Ghobrial; Bernd Giebel; Mario Gimona; Michael Graner; Ihsan Gursel; Mayda Gursel; Niels H H Heegaard; An Hendrix; Peter Kierulf; Katsutoshi Kokubun; Maja Kosanovic; Veronika Kralj-Iglic; Eva-Maria Krämer-Albers; Saara Laitinen; Cecilia Lässer; Thomas Lener; Erzsébet Ligeti; Aija Linē; Georg Lipps; Alicia Llorente; Jan Lötvall; Mateja Manček-Keber; Antonio Marcilla; Maria Mittelbrunn; Irina Nazarenko; Esther N M Nolte-'t Hoen; Tuula A Nyman; Lorraine O'Driscoll; Mireia Olivan; Carla Oliveira; Éva Pállinger; Hernando A Del Portillo; Jaume Reventós; Marina Rigau; Eva Rohde; Marei Sammar; Francisco Sánchez-Madrid; N Santarém; Katharina Schallmoser; Marie Stampe Ostenfeld; Willem Stoorvogel; Roman Stukelj; Susanne G Van der Grein; M Helena Vasconcelos; Marca H M Wauben; Olivier De Wever
Journal:  J Extracell Vesicles       Date:  2015-05-14

Review 2.  Diseases caused by mutations in ORAI1 and STIM1.

Authors:  Rodrigo S Lacruz; Stefan Feske
Journal:  Ann N Y Acad Sci       Date:  2015-10-15       Impact factor: 5.691

3.  York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.

Authors:  Thomas Markello; Dong Chen; Justin Y Kwan; Iren Horkayne-Szakaly; Alan Morrison; Olga Simakova; Irina Maric; Jay Lozier; Andrew R Cullinane; Tatjana Kilo; Lynn Meister; Kourosh Pakzad; William Bone; Sanjay Chainani; Elizabeth Lee; Amanda Links; Cornelius Boerkoel; Roxanne Fischer; Camilo Toro; James G White; William A Gahl; Meral Gunay-Aygun
Journal:  Mol Genet Metab       Date:  2014-12-24       Impact factor: 4.797

4.  Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.

Authors:  Vasyl Nesin; Graham Wiley; Maria Kousi; E-Ching Ong; Thomas Lehmann; David J Nicholl; Mohnish Suri; Nortina Shahrizaila; Nicholas Katsanis; Patrick M Gaffney; Klaas J Wierenga; Leonidas Tsiokas
Journal:  Proc Natl Acad Sci U S A       Date:  2014-03-03       Impact factor: 11.205

Review 5.  Calcium Dyshomeostasis in Tubular Aggregate Myopathy.

Authors:  Jong-Mok Lee; Satoru Noguchi
Journal:  Int J Mol Sci       Date:  2016-11-22       Impact factor: 5.923

6.  Stormorken syndrome or York platelet syndrome: A clinician's dilemma.

Authors:  Amrathlal Rabbind Singh; Gilles Morin; Jacques Rochette
Journal:  Mol Genet Metab Rep       Date:  2015-01-29

7.  Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature.

Authors:  Oscar Borsani; Daniela Piga; Stefania Costa; Alessandra Govoni; Francesca Magri; Andrea Artoni; Claudia M Cinnante; Gigliola Fagiolari; Patrizia Ciscato; Maurizio Moggio; Nereo Bresolin; Giacomo P Comi; Stefania Corti
Journal:  Front Neurol       Date:  2018-10-15       Impact factor: 4.003

8.  A dual mechanism promotes switching of the Stormorken STIM1 R304W mutant into the activated state.

Authors:  Marc Fahrner; Michael Stadlbauer; Martin Muik; Petr Rathner; Peter Stathopulos; Mitsu Ikura; Norbert Müller; Christoph Romanin
Journal:  Nat Commun       Date:  2018-02-26       Impact factor: 14.919

9.  ORAI1 channel gating and selectivity is differentially altered by natural mutations in the first or third transmembrane domain.

Authors:  M Bulla; G Gyimesi; J H Kim; R Bhardwaj; M A Hediger; M Frieden; N Demaurex
Journal:  J Physiol       Date:  2018-11-28       Impact factor: 5.182

10.  Calcium entry units (CEUs): perspectives in skeletal muscle function and disease.

Authors:  Feliciano Protasi; Laura Pietrangelo; Simona Boncompagni
Journal:  J Muscle Res Cell Motil       Date:  2020-08-18       Impact factor: 2.698

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