Publications by authors named "Ralf Werner"

44Publications

Reduced Androgen Receptor Expression in Genital Skin Fibroblasts From Patients With 45,X/46,XY Mosaicism.

J Clin Endocrinol Metab 2019 10;104(10):4630-4638

Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein, Kiel, Germany.

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http://dx.doi.org/10.1210/jc.2019-00108DOI Listing
October 2019

In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis.

Hum Mutat 2018 12 22;39(12):2097-2109. Epub 2018 Oct 22.

Department of Paediatric and Adolescent Medicine, Division of Paediatric Endocrinology and Diabetes, University of Luebeck, Luebeck, Germany.

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http://dx.doi.org/10.1002/humu.23664DOI Listing
December 2018

Oestrogen versus androgen in hormone-replacement therapy for complete androgen insensitivity syndrome: a multicentre, randomised, double-dummy, double-blind crossover trial.

Lancet Diabetes Endocrinol 2018 10 31;6(10):771-780. Epub 2018 Jul 31.

Division of Paediatric Endocrinology and Diabetes, Department of Paediatric and Adolescent Medicine, University of Lübeck, Germany. Electronic address:

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http://dx.doi.org/10.1016/S2213-8587(18)30197-9DOI Listing
October 2018

Novel mosaic variants in two patients with Cornelia de Lange syndrome.

Eur J Med Genet 2018 Nov 15;61(11):680-684. Epub 2017 Nov 15.

Section for Functional Genetics, Institute of Human Genetics, Lübeck, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.11.004DOI Listing
November 2018

Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development.

Hum Mutat 2018 01 8;39(1):114-123. Epub 2017 Nov 8.

Department of Paediatric and Adolescent Medicine, Division of Paediatric Endocrinology and Diabetes, Center of Brain, Behavior and Metabolism, University of Luebeck, Luebeck, Germany.

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http://dx.doi.org/10.1002/humu.23353DOI Listing
January 2018

New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.

PLoS One 2017 1;12(5):e0176720. Epub 2017 May 1.

Department of Paediatrics and Adolescent Medicine, Division of Experimental Paediatric Endocrinology and Diabetes, University of Lübeck, Lübeck, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0176720PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411087PMC
September 2017

Pubertal Development in
17Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency
.

Horm Res Paediatr 2017 12;87(5):354-358. Epub 2016 Dec 12.

Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatric and Adolescent Medicine, University of Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1159/000453613DOI Listing
March 2018

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network.

Eur J Endocrinol 2016 Dec 11;175(6):P1-P17. Epub 2016 Jul 11.

APHPReference Center for rare disorders of the Calcium and Phosphate Metabolism, filière OSCAR and Plateforme d'Expertise Maladies Rares Paris-Sud, Hôpital Bicêtre Paris Sud, Le Kremlin Bicêtre, France

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http://dx.doi.org/10.1530/EJE-16-0107DOI Listing
December 2016

Requirement for basement membrane laminin α5 during urethral and external genital development.

Mech Dev 2016 08 18;141:62-69. Epub 2016 May 18.

Division of Nephrology, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address:

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http://dx.doi.org/10.1016/j.mod.2016.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4995130PMC
August 2016

Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation.

Sex Dev 2015 18;9(5):260-8. Epub 2015 Dec 18.

Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatric and Adolescent Medicine, University of Lx00FC;beck, Lx00FC;beck, Germany.

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http://dx.doi.org/10.1159/000442309DOI Listing
September 2016

46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing.

J Clin Endocrinol Metab 2015 Jul 30;100(7):E1022-9. Epub 2015 Apr 30.

Department of Paediatric and Adolescent Medicine, and Division of Experimental Paediatric Endocrinology and Diabetes (R.W., W.B., L.M., O.H.), Departments of Pathology (H.M.), Gynecology (T.S.), Neurology and Institute of Neurogenetics (P.C.), and Paediatric and Adult Movement Disorders and Neuropsychiatry and Institute of Neurogenetics (T.B.), Institute of Integrative and Experimental Genomics (B.R.), University of Luebeck, 23538 Luebeck, Germany; and Department of Biophysics and Biophysical Chemistry (J.M.K.), Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.

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http://dx.doi.org/10.1210/jc.2015-1314DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4490300PMC
July 2015

Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome.

Sex Dev 2015 20;9(2):69-74. Epub 2015 Jan 20.

Division of Experimental Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University of Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1159/000371464DOI Listing
February 2016

Preserved fertility in a patient with gynecomastia associated with the p.Pro695Ser mutation in the androgen receptor.

Sex Dev 2014 15;8(6):350-5. Epub 2014 Nov 15.

Centro de Biologia Molecular e Engenharia Genética (CBMEG), Universidade Estadual de Campinas, Campinas, Brazil.

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http://dx.doi.org/10.1159/000368862DOI Listing
September 2015

Androgen action.

Endocr Dev 2014 9;27:28-40. Epub 2014 Sep 9.

Universität zu Lübeck, Sektion Experimentelle Pädiatrische Endokrinologie und Diabetologie, Klinik für Kinder und Jugendliche, Universitätsklinikum Schleswig-Holstein (UKSH), Lübeck, Germany.

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https://www.urmc.rochester.edu/george-whipple-lab/documents/
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http://www.karger.com?doi=10.1159/000363610
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http://dx.doi.org/10.1159/000363610DOI Listing
June 2015

Management of disorders of sex development.

Nat Rev Endocrinol 2014 Sep 15;10(9):520-9. Epub 2014 Jul 15.

Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics, Christian-Albrechts-University, Schwanenweg 20, 24105 Kiel, Germany.

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http://dx.doi.org/10.1038/nrendo.2014.108DOI Listing
September 2014

46,XY disorder of sex development in a sudanese patient caused by a novel mutation in the HSD17B3 gene.

Sex Dev 2014 12;8(4):151-5. Epub 2014 Jun 12.

Al-Neelain Medical Research Centre, Faculty of Medicine, Al-Neelain University, Khartoum, Sudan.

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https://www.karger.com/Article/FullText/363201
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http://dx.doi.org/10.1159/000363201DOI Listing
April 2015

Different pattern of epigenetic changes of the GNAS gene locus in patients with pseudohypoparathyroidism type Ic confirm the heterogeneity of underlying pathomechanisms in this subgroup of pseudohypoparathyroidism and the demand for a new classification of GNAS-related disorders.

J Clin Endocrinol Metab 2014 Aug 30;99(8):E1564-70. Epub 2014 May 30.

Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatrics, University of Lübeck, 23538 Lübeck, Germany.

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http://dx.doi.org/10.1210/jc.2013-4477DOI Listing
August 2014

Androgen insensitivity syndrome.

Semin Reprod Med 2012 Oct 8;30(5):432-42. Epub 2012 Oct 8.

Department of Paediatrics, University of Cambridge, Addenbrooke's Hospital, Cambridge, United Kingdom.

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http://dx.doi.org/10.1055/s-0032-1324728DOI Listing
October 2012

RWDD1 interacts with the ligand binding domain of the androgen receptor and acts as a coactivator of androgen-dependent transactivation.

Mol Cell Endocrinol 2012 Jul 2;358(1):53-62. Epub 2012 Mar 2.

Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany.

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http://dx.doi.org/10.1016/j.mce.2012.02.020DOI Listing
July 2012

46,XY disorders of sex development--the undermasculinised male with disorders of androgen action.

Best Pract Res Clin Endocrinol Metab 2010 Apr;24(2):263-77

Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany.

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http://dx.doi.org/10.1016/j.beem.2009.11.002DOI Listing
April 2010

Apolipoprotein D (APOD) is a putative biomarker of androgen receptor function in androgen insensitivity syndrome.

J Mol Med (Berl) 2009 Jun 30;87(6):623-32. Epub 2009 Mar 30.

Department of Pediatrics, University-Hospital Schleswig-Holstein, Christian Albrechts University of Kiel, Germany.

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http://dx.doi.org/10.1007/s00109-009-0462-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518750PMC
June 2009

A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency.

J Clin Endocrinol Metab 2007 May 13;92(5):1764-8. Epub 2007 Feb 13.

Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University of Luebeck, Ratzeburger Allee 160, 23538 Luebeck, Germany.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2006-2122DOI Listing
May 2007

Cell-line and tissue-specific signatures of androgen receptor-coregulator transcription.

J Mol Med (Berl) 2006 Nov 24;84(11):919-31. Epub 2006 Aug 24.

Department of Pediatric and Adolescent Medicine, University Hospital Schleswig-Holstein, Campus Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1007/s00109-006-0081-1DOI Listing
November 2006

Androgen receptor gene mutations in androgen insensitivity syndrome cause distinct patterns of reduced activation of androgen-responsive promoter constructs.

J Steroid Biochem Mol Biol 2006 Sep 22;101(1):1-10. Epub 2006 Aug 22.

Department of Pediatric and Adolescent Medicine, University of Lübeck, Germany.

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http://dx.doi.org/10.1016/j.jsbmb.2006.06.016DOI Listing
September 2006

The A645D mutation in the hinge region of the human androgen receptor (AR) gene modulates AR activity, depending on the context of the polymorphic glutamine and glycine repeats.

J Clin Endocrinol Metab 2006 Sep 27;91(9):3515-20. Epub 2006 Jun 27.

Department of Pediatric and Adolescent Medicine, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany.

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http://dx.doi.org/10.1210/jc.2006-0372DOI Listing
September 2006

Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure.

J Clin Endocrinol Metab 2005 Jan 26;90(1):538-41. Epub 2004 Oct 26.

Department of Pediatrics, Division of Pediatric Endocrinology, University Hospital Schleswig-Holstein, Campus Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany.

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http://dx.doi.org/10.1210/jc.2004-1059DOI Listing
January 2005

Chlamydomonas reinhardtii as a unicellular model for circadian rhythm analysis.

Authors:
Ralf Werner

Chronobiol Int 2002 Mar;19(2):325-43

University of Hamburg, Institute for General Botany and Botanical Garden, Department of Cell Biology, Germany.

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http://dx.doi.org/10.1081/cbi-120002981DOI Listing
March 2002