D
Dov Tiosano
Researcher at Rambam Health Care Campus
Publications - 15
Citations - 1065
Dov Tiosano is an academic researcher from Rambam Health Care Campus. The author has contributed to research in topics: Rickets & STX16. The author has an hindex of 9, co-authored 15 publications receiving 942 citations. Previous affiliations of Dov Tiosano include Rappaport Faculty of Medicine & Technion – Israel Institute of Technology.
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Journal ArticleDOI
Global Consensus Recommendations on Prevention and Management of Nutritional Rickets
Craig F Munns,Nick Shaw,Mairead Kiely,Bonny Specker,Tom D. Thacher,Keiichi Ozono,Toshimi Michigami,Dov Tiosano,M Zulf Mughal,Outi Mäkitie,Lorna Ramos-Abad,Leanne M Ward,Linda A. DiMeglio,Navoda Atapattu,Hamilton Cassinelli,Christian Braegger,John M. Pettifor,Anju Seth,Hafsatu Wasagu Idris,Vijayalakshmi Bhatia,Junfen Fu,Gail R Goldberg,Lars Sävendahl,Rajesh Khadgawat,Paweł Płudowski,Jane Maddock,Elina Hyppönen,AO Oduwole,Emma Frew,Magda Aguiar,Ted Tulchinsky,Gary Butler,Wolfgang Högler +32 more
TL;DR: Rickets, osteomalacia, and vitamin D and calcium deficiencies are preventable global public health problems in infants, children, and adolescents and implementation of international rickets prevention programs, including supplementation and food fortification is urgently required.
Journal ArticleDOI
SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4
Hannah Mandel,Revital Shemer,Revital Shemer,Zvi Borochowitz,Marina Okopnik,Carlos Knopf,Margarita Indelman,Arie Drugan,Arie Drugan,Dov Tiosano,Ruth Gershoni-Baruch,Ruth Gershoni-Baruch,Mordechai Choder,Eli Sprecher,Eli Sprecher +14 more
TL;DR: A novel autosomal-recessive syndrome that consists of female to male sex reversal and renal, adrenal, and lung dysgenesis and is associated with additional developmental defects is reported and attribute a pivotal role to WNT4 signaling during organogenesis in humans.
Journal ArticleDOI
Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis
Debayan Dasgupta,Mark J. Wee,Monica Reyes,Yuwen Li,Peter J. Simm,Peter J. Simm,Amita Sharma,Karl P. Schlingmann,Marco Janner,Andrew Biggin,Joanna Lazier,Michaela Gessner,Dionisios Chrysis,Shamir Tuchman,H. Jorge Baluarte,Michael A. Levine,Dov Tiosano,Karl L. Insogna,David A. Hanley,Thomas O. Carpenter,Shoji Ichikawa,Bernd Hoppe,Martin Konrad,Lars Sävendahl,Craig F Munns,Craig F Munns,Hang Lee,Harald Jüppner,Clemens Bergwitz +28 more
TL;DR: In this article, a review of clinical and laboratory records of 133 individuals from 27 kindreds, including 5 previously unreported HHRH kindreds and two cases with IH, in which known and novel SLC34A3 mutations (c.1357delTTC [p.F453del]; c.G1369A [p] and c.367delC] were identified.
Journal ArticleDOI
The Role of Vitamin D Receptor in Innate and Adaptive Immunity: A Study in Hereditary Vitamin D–Resistant Rickets Patients
Dov Tiosano,Gizi Wildbaum,Vardit Gepstein,Oleg Verbitsky,Yosef Weisman,Nathan Karin,Amos Eztioni +6 more
TL;DR: Impairments in various components of innate immunity in HVDTRR patients' monocytes and a proinflammatory cytokine profile in their lymphocytes are demonstrated.
Journal ArticleDOI
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction
Dov Tiosano,Dov Tiosano,Hagit N. Baris,Hagit N. Baris,Anlu Chen,Marrit M. Hitzert,Markus Schueler,Federico Gulluni,Antje Wiesener,Antonio Bergua,Adi Mory,Brett Copeland,Joseph G. Gleeson,Joseph G. Gleeson,Patrick Rump,Hester van Meer,Deborah A Sival,Volker Haucke,Josh Kriwinsky,Karl X. Knaup,André Reis,Nadine N. Hauer,Emilio Hirsch,Ronald Roepman,Rolph Pfundt,Christian Thiel,Michael S. Wiesener,Mariam G Aslanyan,David A. Buchner +28 more
TL;DR: The considerable phenotypic overlap, yet distinct features, between this syndrome and Lowe’s syndrome, which is caused by mutations in the PI-5-phosphatase OCRL, highlight the key role of PI metabolizing enzymes in specific developmental processes and demonstrate the unique non-redundant functions of each enzyme.