Publications by authors named "Andreas R Janecke"

100Publications

Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria.

Clin Genet 2020 Sep 7;98(3):282-287. Epub 2020 Jul 7.

Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1111/cge.13797DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7497047PMC
September 2020

AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect.

Hum Genet 2020 Oct 18;139(10):1247-1259. Epub 2020 Apr 18.

Institute of Cell Biology, Biocenter, Medical University of Innsbruck, 6020, Innsbruck, Austria.

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http://dx.doi.org/10.1007/s00439-020-02168-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7497319PMC
October 2020

Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.

Gastroenterology 2018 07 29;155(1):130-143.e15. Epub 2018 Mar 29.

Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria; St. Anna Kinderspital and Children's Cancer Research Institute, Department of Pediatrics, Medical University of Vienna, Vienna, Austria. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2018.03.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6058035PMC
July 2018

Reduced NHE3 activity results in congenital diarrhea and can predispose to inflammatory bowel disease.

Am J Physiol Regul Integr Comp Physiol 2017 03;312(3):R311

Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.

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http://www.physiology.org/doi/10.1152/ajpregu.00545.2016
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http://dx.doi.org/10.1152/ajpregu.00545.2016DOI Listing
March 2017

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.

J Invest Dermatol 2017 04 23;137(4):845-854. Epub 2016 Dec 23.

MRC Laboratory for Molecular Cell Biology, University College London, London, UK; Institute of Child Health, University College London, London, UK; Inherited Metabolic Diseases Unit, Great Ormond Street Hospital, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2016.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5358661PMC
April 2017

Mechanisms Underlying Dysregulation of Electrolyte Absorption in Inflammatory Bowel Disease-Associated Diarrhea.

Inflamm Bowel Dis 2016 06;22(6):E17-8

*Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria †Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.1097/MIB.0000000000000778DOI Listing
June 2016

Congenital Sodium Diarrhea: A Form of Intractable Diarrhea, With a Link to Inflammatory Bowel Disease.

J Pediatr Gastroenterol Nutr 2016 08;63(2):170-6

*Department of Pediatrics I, Medical University of Innsbruck †Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.1097/MPG.0000000000001139DOI Listing
August 2016

Towards understanding microvillus inclusion disease.

Mol Cell Pediatr 2016 Dec 29;3(1). Epub 2016 Jan 29.

Department of Paediatrics I, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.

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http://dx.doi.org/10.1186/s40348-016-0031-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4733813PMC
December 2016

Early Clinical Diagnosis of PC1/3 Deficiency in a Patient With a Novel Homozygous PCSK1 Splice-Site Mutation.

J Pediatr Gastroenterol Nutr 2016 Apr;62(4):577-80

*Department of General and Transplant Surgery, Division of Pediatric Surgery †Department of Pediatrics I ‡Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria §Division of Pediatric Gastroenterology, Hepatology and Nutrition, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey.

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http://dx.doi.org/10.1097/MPG.0000000000001018DOI Listing
April 2016

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

Brain 2015 Aug 13;138(Pt 8):2161-72. Epub 2015 Jun 13.

2 Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerpen 2610, Belgium 3 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerpen 2610, Belgium 16 Department of Neurology, Antwerp University Hospital, Antwerpen 2610, Belgium.

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http://dx.doi.org/10.1093/brain/awv158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4840952PMC
August 2015

MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy.

Eur J Pediatr 2015 Jan 3;174(1):113-8. Epub 2014 Dec 3.

Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Währinger Gürtel 18-20, 1090, Wien, Austria,

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http://dx.doi.org/10.1007/s00431-014-2463-7DOI Listing
January 2015

Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C.

J Mol Biol 2014 Sep 1;426(19):3221-3231. Epub 2014 Aug 1.

Berlin Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin Brandenburg School for Regenerative Therapies, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00222836140039
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http://dx.doi.org/10.1016/j.jmb.2014.07.029DOI Listing
September 2014

Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity.

Traffic 2014 Jan 19;15(1):22-42. Epub 2013 Nov 19.

Division of Cell Biology, Biocenter Innsbruck, Medical University Innsbruck, Innsbruck, Austria; Division of Pathology, Department of Pediatric Laboratory Medicine, Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1111/tra.12131DOI Listing
January 2014

Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome.

Hum Mol Genet 2013 Sep 23;22(18):3761-72. Epub 2013 May 23.

Department of Pediatrics I, Division of Human Genetics, Innsbruck Medical University, Anichstrasse 35, Innsbruck, Austria.

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http://dx.doi.org/10.1093/hmg/ddt227DOI Listing
September 2013

MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation.

JIMD Rep 2013 29;10:41-4. Epub 2012 Dec 29.

Department of Medicine II Gastroenterology and Hepatology, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.

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http://dx.doi.org/10.1007/8904_2012_199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755566PMC
May 2013

Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family.

Br J Ophthalmol 2013 Feb 10;97(2):169-73. Epub 2012 Nov 10.

Department of Ophthalmology, Medical University of Vienna, Waehringer Guertel 18-20, Vienna A-1090, Austria.

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http://bjo.bmj.com/lookup/doi/10.1136/bjophthalmol-2012-3023
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http://dx.doi.org/10.1136/bjophthalmol-2012-302355DOI Listing
February 2013

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.

Pediatrics 2012 Oct 10;130(4):e1034-9. Epub 2012 Sep 10.

Department of Pediatrics at the Institute for Genetic and Metabolic Diseases, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1542/peds.2011-2711DOI Listing
October 2012

Inherited ichthyoses/generalized Mendelian disorders of cornification.

Eur J Hum Genet 2013 Feb 27;21(2):123-33. Epub 2012 Jun 27.

Department of Dermatology and Venereology, Innsbruck Medical University, Innsbruck, Austria.

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http://www.nature.com/articles/ejhg2012121
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http://dx.doi.org/10.1038/ejhg.2012.121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548255PMC
February 2013

Corrigendum to "Ferroportin disease: A systematic meta-analysis of clinical and molecular findings" J. Hepatol. 2010 Nov;53(5):941-949.

J Hepatol 2011 Sep 25;55(3):734-736. Epub 2011 May 25.

Department of Medicine II, Gastroenterology and Hepatology Medical University of Innsbruck, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.jhep.2011.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5637307PMC
September 2011

Identification of mutations in SLC40A1 that affect ferroportin function and phenotype of human ferroportin iron overload.

Gastroenterology 2011 Jun 9;140(7):2056-63, 2063.e1. Epub 2011 Mar 9.

Department of Medicine II, Gastroenterology and Hepatology, Medical University of Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.1053/j.gastro.2011.02.064DOI Listing
June 2011

Hypochloremic metabolic alkalosis and failure to thrive: question.

Pediatr Nephrol 2011 Jun 28;26(6):893. Epub 2010 Oct 28.

Department of Pediatric Nephrology, Charité Berlin, Augustenburger Platz 1, 13353, Berlin, Germany,

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http://dx.doi.org/10.1007/s00467-010-1662-3DOI Listing
June 2011

Hypochloremic metabolic alkalosis and failure to thrive: answer.

Pediatr Nephrol 2011 Jun 28;26(6):895-6. Epub 2010 Oct 28.

Department of Pediatric Nephrology, Charité Berlin, Augustenburger Platz 1, 13353, Berlin, Germany,

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http://dx.doi.org/10.1007/s00467-010-1667-yDOI Listing
June 2011

Lower prevalence of common filaggrin mutations in a community sample of atopic eczema: is disease severity important?

Wien Klin Wochenschr 2010 Oct 27;122(19-20):551-7. Epub 2010 Sep 27.

Department of Dermatology, Innsbruck Medical University, Innsbruck, Austria.

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http://link.springer.com/10.1007/s00508-010-1449-3
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http://dx.doi.org/10.1007/s00508-010-1449-3DOI Listing
October 2010

Congenital disorders of glycosylation with emphasis on loss of dermatan-4-sulfotransferase.

Prog Mol Biol Transl Sci 2010 ;93:289-307

Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1016/S1877-1173(10)93012-3DOI Listing
October 2010

Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.

J Hepatol 2010 Nov 17;53(5):941-9. Epub 2010 Jul 17.

Department of Medicine II, Gastroenterology and Hepatology, Medical University of Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.1016/j.jhep.2010.05.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2956830PMC
November 2010

Identification of a 4.9-kilo base-pair Alu-mediated founder SDHD deletion in two extended paraganglioma families from Austria.

J Hum Genet 2010 Mar 29;55(3):182-5. Epub 2010 Jan 29.

Division of Clinical Genetics, Innsbruck Medical University, Innsbruck, Austria.

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http://dx.doi.org/10.1038/jhg.2009.142DOI Listing
March 2010

Prenatal diagnosis of apert syndrome with cloverleaf skull deformity using ultrasound, fetal magnetic resonance imaging and genetic analysis.

Fetal Diagn Ther 2010 26;27(1):51-6. Epub 2009 Nov 26.

Department of Obstetrics and Gynecology, Paracelsus Private Medical University, Müllner Hauptstrasse 48, AT-5020 Salzburg, Austria.

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http://dx.doi.org/10.1159/000262447DOI Listing
June 2010

"Essentially" pure trisomy 3q27 --> qter: further delineation of the partial trisomy 3q phenotype.

Am J Med Genet A 2009 Nov;149A(11):2522-6

Department of Medical Genetics, Molecular and Clinical Pharmacology, Division of Clinical Genetics, Innsbruck Medical University, Innsbruck, Austria.

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http://dx.doi.org/10.1002/ajmg.a.33058DOI Listing
November 2009

Refinement of the GINGF3 locus for hereditary gingival fibromatosis.

Eur J Pediatr 2010 Mar 26;169(3):327-32. Epub 2009 Jul 26.

Division of Clinical Genetics, Innsbruck Medical University, Schoepfstrasse 41, 6020 Innsbruck, Austria.

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http://dx.doi.org/10.1007/s00431-009-1034-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2812425PMC
March 2010

A novel homozygous SLC26A3 nonsense mutation in a Tyrolean girl with congenital chloride diarrhea.

J Pediatr Gastroenterol Nutr 2008 Sep;47(3):363-6

Department of Pediatrics, Medical University, Innsbruck, Austria.

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http://dx.doi.org/10.1097/MPG.0b013e318174e818DOI Listing
September 2008

Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene.

Acta Neuropathol 2008 Nov 26;116(5):491-506. Epub 2008 Jul 26.

Department of Neuropathology, RWTH Aachen University Hospital, Pauwelsstr. 30, 52074, Aachen, Germany.

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http://link.springer.com/10.1007/s00401-008-0417-8
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http://dx.doi.org/10.1007/s00401-008-0417-8DOI Listing
November 2008

CFTR gene mutations in pancreatitis: Frequency and clinical manifestations in an Austrian patient cohort.

Wien Klin Wochenschr 2007 ;119(17-18):527-33

Department of Medicine, Clinical Division of Gastroenterology and Hepatology, Innsbruck Medical University, Austria.

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http://dx.doi.org/10.1007/s00508-007-0849-5DOI Listing
January 2008

Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.

Arch Neurol 2007 Jul;64(7):966-70

Section of Clinical Genetics, Innsbruck Medical University, Anichstrasse 35, A-6020 Innsbruck, Austria.

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http://dx.doi.org/10.1001/archneur.64.7.966DOI Listing
July 2007

The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.

Invest Ophthalmol Vis Sci 2007 Apr;48(4):1824-31

Department of Pathophysiology of Vision and Neuroophthalmology, University Eye Hospital, Schleichstrasse 12-16, D-72076 Tübingen, Germany.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.0
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http://dx.doi.org/10.1167/iovs.06-0628DOI Listing
April 2007

Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris.

Eur J Hum Genet 2007 Feb 13;15(2):179-84. Epub 2006 Dec 13.

Department of Dermatology, Innsbruck Medical University, Innsbruck, Austria.

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http://dx.doi.org/10.1038/sj.ejhg.5201742DOI Listing
February 2007

A new, X-linked endothelial corneal dystrophy.

Am J Ophthalmol 2006 Mar;141(3):478-487

Department of Ophthalmology, Innsbruck Medical University, Innsbruck, Austria.

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http://dx.doi.org/10.1016/j.ajo.2005.10.020DOI Listing
March 2006

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

Hum Mol Genet 2005 Dec 3;14(24):3865-75. Epub 2005 Nov 3.

Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor 48105, USA, and Unidad de Genética Médica y Diagnóstico Prenatal, Hospitales Universitarios Virgen del Rocío, Seville, Spain.

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http://dx.doi.org/10.1093/hmg/ddi411DOI Listing
December 2005

GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.

Am J Med Genet A 2005 Mar;133A(2):128-31

Department of Medical Biology and Human Genetics, Innsbruck Medical University, Schöpfstrasse 41, A-6020 Innsbruck, Austria.

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http://dx.doi.org/10.1002/ajmg.a.30515DOI Listing
March 2005