Publications by authors named "Uwe Kornak"

98Publications

CRISPR-Cas9-Edited Tacrolimus-Resistant Antiviral T Cells for Advanced Adoptive Immunotherapy in Transplant Recipients.

Mol Ther 2020 Sep 8. Epub 2020 Sep 8.

Berlin Institute of Health (BIH) Center for Regenerative Therapies (B-CRT), Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin Center for Advanced Therapies (BeCAT), Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ymthe.2020.09.011DOI Listing
September 2020

Premature ageing disorders - a clinical and genetic compendium.

Clin Genet 2020 Aug 28. Epub 2020 Aug 28.

Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.

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http://dx.doi.org/10.1111/cge.13837DOI Listing
August 2020

Craniosynostosis-microphthalmia syndrome belongs to the spectrum of BCOR-related disorders.

Clin Genet 2020 Aug 3. Epub 2020 Aug 3.

Medical Genetics Unit, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.

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http://dx.doi.org/10.1111/cge.13808DOI Listing
August 2020

Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome.

Calcif Tissue Int 2020 Sep 15;107(3):294-299. Epub 2020 Jul 15.

Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Lottestr. 59, 22529, Hamburg, Germany.

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http://dx.doi.org/10.1007/s00223-020-00721-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7415034PMC
September 2020

Adult Osteosclerotic Metaphyseal Dysplasia With Progressive Osteonecrosis of the Jaws and Abnormal Bone Resorption Pattern Due to a LRRK1 Splice Site Mutation.

J Bone Miner Res 2020 Jul 19;35(7):1322-1332. Epub 2020 Mar 19.

Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.

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http://dx.doi.org/10.1002/jbmr.3995DOI Listing
July 2020

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.

Bone 2020 Apr 7;133:115219. Epub 2020 Jan 7.

Department of Pediatric Genetics, Akdeniz University Medical School, 07059 Antalya, Turkey; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2019.115219DOI Listing
April 2020

Assessment of Bones Deficient in Fibrillin-1 Microfibrils Reveals Pronounced Sex Differences.

Int J Mol Sci 2019 Dec 1;20(23). Epub 2019 Dec 1.

Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, 10117 Berlin, Germany.

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http://dx.doi.org/10.3390/ijms20236059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6928642PMC
December 2019

Mice lacking plastin-3 display a specific defect of cortical bone acquisition.

Bone 2020 01 31;130:115062. Epub 2019 Oct 31.

Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2019.115062DOI Listing
January 2020

Response to "Letter to the editor".

Authors:
Uwe Kornak

Bone 2019 11 24;128:115065. Epub 2019 Sep 24.

Charité-Universitaetsmedizin Berlin, Institute of Medical Genetics and Human Genetics, Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2019.115065DOI Listing
November 2019

Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome.

J Hum Genet 2019 Sep 8;64(9):867-873. Epub 2019 Jul 8.

Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.

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http://dx.doi.org/10.1038/s10038-019-0638-9DOI Listing
September 2019

PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 12 5;21(12):2807-2814. Epub 2019 Jun 5.

Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892739PMC
December 2019

Report of Another Mutation Proven Case of Carbonic Anhydrase II Deficiency.

J Pediatr Genet 2019 Jun 18;8(2):91-94. Epub 2018 Nov 18.

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1675781
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http://dx.doi.org/10.1055/s-0038-1675781DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6499615PMC
June 2019

SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.

J Hum Genet 2019 Jul 24;64(7):609-616. Epub 2019 Apr 24.

Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.

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http://www.nature.com/articles/s10038-019-0602-8
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http://dx.doi.org/10.1038/s10038-019-0602-8DOI Listing
July 2019

Generation of a human induced pluripotent stem cell line (BIHi002-A) from a patient with CLCN7-related infantile malignant autosomal recessive osteopetrosis.

Stem Cell Res 2019 03 26;35:101367. Epub 2018 Dec 26.

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt - Universität zu Berlin, Berlin Institute of Health, Berlin-Brandenburg Center for Regenerative Therapies, Berlin, Germany; Berlin Institute of Health (BIH), Berlin, Germany.

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http://dx.doi.org/10.1016/j.scr.2018.101367DOI Listing
March 2019

Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1.

Bone 2019 03 8;120:495-503. Epub 2018 Dec 8.

Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Max Planck Institute for Molecular Genetics, Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S87563282183044
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http://dx.doi.org/10.1016/j.bone.2018.12.002DOI Listing
March 2019

A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome.

Am J Med Genet A 2018 09 8;176(9):2028-2033. Epub 2018 Sep 8.

Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.

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http://dx.doi.org/10.1002/ajmg.a.40379DOI Listing
September 2018

Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis.

Calcif Tissue Int 2018 11 26;103(5):512-521. Epub 2018 Jun 26.

Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Lottestr. 59, 22529, Hamburg, Germany.

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http://dx.doi.org/10.1007/s00223-018-0447-8DOI Listing
November 2018

Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation.

PLoS One 2018 7;13(6):e0198510. Epub 2018 Jun 7.

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute for Medical Genetics and Human Genetics, Berlin, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0198510PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5991660PMC
December 2018

Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses.

Bone 2018 08 11;113:29-40. Epub 2018 Apr 11.

Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S87563282183015
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http://dx.doi.org/10.1016/j.bone.2018.04.006DOI Listing
August 2018

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.

Bone 2018 05 27;110:368-377. Epub 2018 Feb 27.

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2018.02.029DOI Listing
May 2018

Examining tissue composition, whole-bone morphology and mechanical behavior of Gorab mice tibiae: A mouse model of premature aging.

J Biomech 2017 Dec 25;65:145-153. Epub 2017 Oct 25.

Research Centre, Shriners Hospital for Children-Canada, Department of Pediatric Surgery, McGill University, Montreal, Canada; Julius Wolff Institute, Charité-Universitätsmedizin Berlin, Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jbiomech.2017.10.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5695220PMC
December 2017

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

Am J Hum Genet 2017 Nov;101(5):833-843

Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673623PMC
November 2017

Congenital disorders of glycosylation (CDG): Quo vadis?

Eur J Med Genet 2018 Nov 25;61(11):643-663. Epub 2017 Oct 25.

Center for Metabolic Diseases, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2017.10.012DOI Listing
November 2018

Clinical Significance of DXA and HR-pQCT in Autosomal Dominant Osteopetrosis (ADO II).

Calcif Tissue Int 2018 01 10;102(1):41-52. Epub 2017 Oct 10.

Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Lottestr. 59, 22529, Hamburg, Germany.

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http://dx.doi.org/10.1007/s00223-017-0332-xDOI Listing
January 2018

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.

Am J Med Genet A 2017 Sep 25;173(9):2534-2538. Epub 2017 Jul 25.

Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38345DOI Listing
September 2017

Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.

Eur J Med Genet 2017 Aug 27;60(8):421-425. Epub 2017 May 27.

Institut Fuer Medizinische Genetik und Humangenetik, Charité-Universitaetsmedizin Berlin, Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.05.004DOI Listing
August 2017

Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus.

Am J Med Genet A 2017 Jun 19;173(6):1694-1697. Epub 2017 Apr 19.

Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://doi.wiley.com/10.1002/ajmg.a.38209
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http://dx.doi.org/10.1002/ajmg.a.38209DOI Listing
June 2017

A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa.

J Hum Genet 2017 Feb 8;62(2):325-328. Epub 2016 Sep 8.

Institut fuer Medizinische Genetik und Humangenetik, Charité-Universitaetsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1038/jhg.2016.111DOI Listing
February 2017

A Novel ANO5 Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis.

J Bone Miner Res 2017 Feb 9;32(2):277-284. Epub 2016 Sep 9.

Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/jbmr.2980DOI Listing
February 2017

The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface.

Hum Mol Genet 2016 09 27;25(17):3836-3848. Epub 2016 Jul 27.

Institute for Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Germany

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http://dx.doi.org/10.1093/hmg/ddw230DOI Listing
September 2016

The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity.

Indian J Dermatol 2015 Sep-Oct;60(5):521

Department of Pediatrics, Division of Genetics and Metabolism, Maulana Azad Medical College, New Delhi, India.

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http://www.e-ijd.org/text.asp?2015/60/5/521/164434
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http://dx.doi.org/10.4103/0019-5154.164434DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4601448PMC
November 2015

Key features and clinical variability of COG6-CDG.

Mol Genet Metab 2015 Nov 29;116(3):163-70. Epub 2015 Jul 29.

Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitaetsmedizin Berlin, Berlin, Germany; Institute of Medical Genetics and Human Genetics, Charité-Universitaetsmedizin Berlin, Berlin, Germany; Max Planck Institute for Molecular Genetics, Berlin, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192153003
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http://dx.doi.org/10.1016/j.ymgme.2015.07.003DOI Listing
November 2015

GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting.

J Invest Dermatol 2015 Oct 22;135(10):2368-2376. Epub 2015 May 22.

Institut fuer Medizinische Genetik und Humangenetik, Charité-Universitaetsmedizin Berlin, Berlin, Germany; Max-Planck-Institut fuer Molekulare Genetik, FG Development & Disease, Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitaetsmedizin Berlin, Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1038/jid.2015.192DOI Listing
October 2015

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

Am J Hum Genet 2014 Dec;95(6):763-70

Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259972PMC
December 2014

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.

Eur J Med Genet 2015 Jan 24;58(1):21-7. Epub 2014 Oct 24.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.10.001DOI Listing
January 2015

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.

Sci Transl Med 2014 Sep;6(252):252ra123

Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany. Max Planck Institute for Molecular Genetics, Ihnestr. 63-73, 14195 Berlin, Germany. Berlin-Brandenburg Center for Regenerative Therapies, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany. Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, Takustr. 9, 14195 Berlin, Germany.

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http://dx.doi.org/10.1126/scitranslmed.3009262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4512639PMC
September 2014

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.

Mol Genet Metab 2014 Aug 21;112(4):310-6. Epub 2014 May 21.

Institut fuer Medizinische Genetik und Humangenetik, Charité-Universitaetsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Max-Planck-Institut fuer Molekulare Genetik, FG Development & Disease, Ihnestr. 63-73, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitaetsmedizin Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.05.003DOI Listing
August 2014

Transport activity and presence of ClC-7/Ostm1 complex account for different cellular functions.

EMBO Rep 2014 Jul 12;15(7):784-91. Epub 2014 May 12.

Leibniz-Institut für Molekulare Pharmakologie (FMP), Berlin, Germany Max-Delbrück-Centrum für Molekulare Medizin (MDC), Berlin, Germany Neurocure Cluster of Excellence, Charité Universitätsmedizin Berlin, Berlin, Germany

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http://dx.doi.org/10.15252/embr.201438553DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4196982PMC
July 2014

Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.

Eur J Med Genet 2014 Apr 6;57(5):230-4. Epub 2014 Mar 6.

Department of Medical Genetics, CHU and University of Liège, Liège, Belgium; Pediatric Department, Clinique de l'Espérance, Liège, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.02.012DOI Listing
April 2014

Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients.

Am J Med Genet A 2014 May 29;164A(5):1245-53. Epub 2014 Jan 29.

National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland; Bahrain Defence Forces Hospital, Department of Paediatric Cardiology, Riffa, Kingdom of Bahrain.

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http://dx.doi.org/10.1002/ajmg.a.36411DOI Listing
May 2014

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.

Eur J Hum Genet 2014 Jul 21;22(7):888-95. Epub 2013 Aug 21.

1] Department of Pediatrics, Institute for Metabolic and Genetic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands [2] Hayward Genetics Center, Tulane University Medical Center, New Orleans, LA, USA.

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http://dx.doi.org/10.1038/ejhg.2013.154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4060105PMC
July 2014

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

Bone 2013 Aug 17;55(2):292-7. Epub 2013 Apr 17.

Institute of Medical Genetics and Human Genetics, Charité - Universitaetsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1016/j.bone.2013.04.007DOI Listing
August 2013

A rare cause of a relatively common neonatal emergency.

Pediatr Hematol Oncol 2012 May 3;29(4):365-7. Epub 2012 Feb 3.

Division of Pediatric Endocrinology and Diabetes, Zeynep Kamil Maternity and Children's Diseases Training and Research Hospital, Istanbul, Turkey.

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http://www.tandfonline.com/doi/full/10.3109/08880018.2011.63
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http://dx.doi.org/10.3109/08880018.2011.630441DOI Listing
May 2012

Animal models with pathological mineralization phenotypes.

Authors:
Uwe Kornak

Joint Bone Spine 2011 Dec 6;78(6):561-7. Epub 2011 May 6.

Institute for Medical Genetics and Human Genetics, Charité-Universitaetsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1016/j.jbspin.2011.03.020DOI Listing
December 2011

Metabolic cutis laxa syndromes.

J Inherit Metab Dis 2011 Aug 23;34(4):907-16. Epub 2011 Mar 23.

Institute for Genetic and Metabolic Disease, Radboud University Medical Centre Nijmegen, P.O Box 9101, 6500, HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-011-9305-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3137780PMC
August 2011

Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation.

Neuro Endocrinol Lett 2010 ;31(3):301-3

Department of Neurology, Charité-Universitätsmedizin Berlin, Germany.

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October 2010

Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis.

Indian J Med Res 2010 Apr;131:508-14

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

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April 2010

Heritable sclerosing bone disorders: presentation and new molecular mechanisms.

Ann N Y Acad Sci 2010 Mar;1192:269-77

University Paris 7, Federation of Rheumatology, Hospital Lariboisière, Paris, France.

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http://doi.wiley.com/10.1111/j.1749-6632.2009.05244.x
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http://dx.doi.org/10.1111/j.1749-6632.2009.05244.xDOI Listing
March 2010

Lessons from cutis laxa syndromes: wrinkles due to improper reloading of the extracellular matrix?

Authors:
Uwe Kornak

Eur J Hum Genet 2009 Sep 29;17(9):1097-8. Epub 2009 Apr 29.

Institut fuer Medizinische Genetik, Charité Universitaetsmedizin, Berlin, Germany.

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http://www.nature.com/articles/ejhg200959
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http://dx.doi.org/10.1038/ejhg.2009.59DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986594PMC
September 2009

Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa.

Biochim Biophys Acta 2009 Sep 8;1792(9):903-14. Epub 2009 Jan 8.

Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2008.12.009DOI Listing
September 2009

Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin.

BMC Med 2008 Jul 31;6:21. Epub 2008 Jul 31.

Max Planck Institute for Molecular Genetics, FG Development & Disease, Berlin, Germany.

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http://dx.doi.org/10.1186/1741-7015-6-21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2516519PMC
July 2008

Ion channels and transporters in osteoclasts.

Arch Biochem Biophys 2008 May 29;473(2):161-5. Epub 2008 Mar 29.

Institut fuer Medizinische Genetik, Charité Universitaetsmedizin, Campus Virchow, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S000398610800168
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http://dx.doi.org/10.1016/j.abb.2008.03.029DOI Listing
May 2008