Literature DB >> 29296943

Hematopoietic cell transplantation for a child with OSTM1 osteopetrosis.

Kathleen M Overholt1,2, Melissa J Rose2, Sarita Joshi2, Gail E Herman3, Rajinder Bajwa2, Rolla Abu-Arja2, Hemalatha G Rangarajan2, Edwin M Horwitz1,2,4,5.   

Abstract

HCT prior to onset of neurologic symptoms in children with OSTM1 osteopetrosis does not halt neurologic progression.

Entities:  

Year:  2016        PMID： 29296943      PMCID： PMC5727773          DOI： 10.1182/bloodadvances.2016002345

Source DB:  PubMed          Journal:  Blood Adv        ISSN： 2473-9529


  15 in total

Review 1.  Skeletal dysplasias with increased bone density: evolution of molecular pathogenesis in the last century.

Authors:  Shagun Aggarwal
Journal:  Gene       Date:  2013-05-05       Impact factor: 3.688

2.  Severe neurodegeneration with impaired autophagy mechanism triggered by ostm1 deficiency.

Authors:  Céline Héraud; Adam Griffiths; Subramanya N M Pandruvada; Manfred W Kilimann; Monica Pata; Jean Vacher
Journal:  J Biol Chem       Date:  2014-04-09       Impact factor: 5.157

3.  Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood transplantation.

Authors:  Laurie A Myers; Michael S Hershfield; Wirt T Neale; Maria Escolar; Joanne Kurtzberg
Journal:  J Pediatr       Date:  2004-11       Impact factor: 4.406

Review 4.  Hematopoietic stem cell transplantation for osteopetrosis.

Authors:  Colin G Steward
Journal:  Pediatr Clin North Am       Date:  2010-02       Impact factor: 3.278

5.  Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.

Authors:  Alessandra Pangrazio; Michael Pusch; Elena Caldana; Annalisa Frattini; Edoardo Lanino; Parag M Tamhankar; Shubha Phadke; Antonio Gonzalez Meneses Lopez; Paul Orchard; Ercan Mihci; Mario Abinun; Michael Wright; Kim Vettenranta; Ivo Bariae; Daniela Melis; Ilhan Tezcan; Clarisse Baumann; Franco Locatelli; Marco Zecca; Edwin Horwitz; Lamia Sfaihi Ben Mansour; Mirjam Van Roij; Paolo Vezzoni; Anna Villa; Cristina Sobacchi
Journal:  Hum Mutat       Date:  2010-01       Impact factor: 4.878

6.  Hematopoietic stem cell transplantation for infantile osteopetrosis.

Authors:  M Eapen; S M Davies; N K Ramsay; P J Orchard
Journal:  Bone Marrow Transplant       Date:  1998-11       Impact factor: 5.483

7.  Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1.

Authors:  Claus-Eric Ott; Björn Fischer; Phillipe Schröter; Reyk Richter; Neerja Gupta; Nishant Verma; Madhulika Kabra; Stefan Mundlos; Anna Rajab; Heidemarie Neitzel; Uwe Kornak
Journal:  Bone       Date:  2013-04-17       Impact factor: 4.398

Review 8.  Osteopetrosis: genetics, treatment and new insights into osteoclast function.

Authors:  Cristina Sobacchi; Ansgar Schulz; Fraser P Coxon; Anna Villa; Miep H Helfrich
Journal:  Nat Rev Endocrinol       Date:  2013-07-23       Impact factor: 43.330

9.  A single-center experience in 20 patients with infantile malignant osteopetrosis.

Authors:  Evelina Mazzolari; Concetta Forino; Alessia Razza; Fulvio Porta; Anna Villa; Luigi Daniele Notarangelo
Journal:  Am J Hematol       Date:  2009-08       Impact factor: 10.047

10.  Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.

Authors:  Annalisa Frattini; Alessandra Pangrazio; Lucia Susani; Cristina Sobacchi; Massimiliano Mirolo; Mario Abinun; Marino Andolina; Adrienne Flanagan; Edwin M Horwitz; Ercan Mihci; Luigi D Notarangelo; Ugo Ramenghi; Anna Teti; Johan Van Hove; Dragana Vujic; Terri Young; Alberto Albertini; Paul J Orchard; Paolo Vezzoni; Anna Villa
Journal:  J Bone Miner Res       Date:  2003-10       Impact factor: 6.741
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  2 in total

Review 1.  One Disease, Many Genes: Implications for the Treatment of Osteopetroses.

Authors:  Sara Penna; Valentina Capo; Eleonora Palagano; Cristina Sobacchi; Anna Villa
Journal:  Front Endocrinol (Lausanne)       Date:  2019-02-19       Impact factor: 5.555

Review 2.  Ostm1 from Mouse to Human: Insights into Osteoclast Maturation.

Authors:  Jean Vacher; Michael Bruccoleri; Monica Pata
Journal:  Int J Mol Sci       Date:  2020-08-05       Impact factor: 5.923
  2 in total

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