Publications Authored by Regina C Betz

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http://dx.doi.org/10.1111/ddg.13886	DOI Listing

UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan.

Authors:

Ambreen Ijaz Sabrina Wolf Safur Rehman Mandukhail Sulman Basit Regina C Betz Abdul Wali

J Dermatol Sci 2019 Aug 9. Epub 2019 Aug 9.

Department of Biotechnology, Faculty of Life Sciences & Informatics, BUITEMS, 87100, Quetta, Pakistan. Electronic address:

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http://dx.doi.org/10.1016/j.jdermsci.2019.08.003	DOI Listing

August 2019

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http://dx.doi.org/10.1111/ddg.13886_g	DOI Listing

Ein neues Forum für seltene Hauterkrankungen.

Authors:

Steffen Emmert Sebastian Iben Judith Fischer Katalin Komlosi Regina C Betz Jorge Frank J Christina Has

J Dtsch Dermatol Ges 2019 Jun;17(6):672-673

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http://dx.doi.org/10.1111/ddg.13863	DOI Listing

June 2019

Novel compound heterozygous and homozygous variants of laminin subunit β3 gene underlie non-Herlitz junctional epidermolysis bullosa in two paternal half-brothers from Saudi Arabia.

Authors:

Hams S Al-Zahrani Saeed Al-Tala Hussein S A Mohamoud Bandar A Al-Shehri Saeed Al-Fadhel Ali Al-Qurashi Ahmad Al-Bishri Jumana Y Al-Aama Changsoo Kang Regina C Betz Musharraf Jelani

Congenit Anom (Kyoto) 2019 May 6;59(3):99-101. Epub 2018 Jul 6.

Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.

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http://dx.doi.org/10.1111/cga.12294	DOI Listing

May 2019

Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis.

J Invest Dermatol 2019 Apr 9;139(4):960-964. Epub 2018 Nov 9.

Institute of Human Genetics, University of Bonn, Bonn, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X183280	Publisher Site
http://dx.doi.org/10.1016/j.jid.2018.10.030	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6431572	PMC

April 2019

Tracking the brain in myotonic dystrophies: A 5-year longitudinal follow-up study.

Authors:

Carla Gliem Martina Minnerop Sandra Roeske Hanna Gärtner Jan-Christoph Schoene-Bake Sandra Adler Juri-Alexander Witt Felix Hoffstaedter Christiane Schneider-Gold Regina C Betz Christoph Helmstaedter Marc Tittgemeyer Katrin Amunts Thomas Klockgether Bernd Weber Cornelia Kornblum

PLoS One 2019 7;14(3):e0213381. Epub 2019 Mar 7.

Department of Neurology, University Hospital Bonn, Bonn, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0213381	PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6405094	PMC

March 2019

Variant in Central Centrifugal Cicatricial Alopecia.

N Engl J Med 2019 02 13;380(9):833-841. Epub 2019 Feb 13.

From the Department of Dermatology (L.M., O.S., A.P., M.P., E.W., L.S., V.B., J.M., E.S.) and the Institute of Pathology (A.G.), Tel Aviv Medical Center, the Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine (L.M., A.P., J.M., E.S.), and the Department of Cell and Developmental Biology (O.I., T.R., N.S.), Tel Aviv University, Tel Aviv, and the Schulich Faculty of Chemistry, Technion, Haifa (N.A.) - all in Israel; the Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany (M.-T.R., R.C.B.); L'Unité Différenciation Epitheliale et Autoimmunité Rhumatoïde (UDEAR), INSERM, Université Paul Sabatier, Université de Toulouse Midi-Pyrénées, Toulouse, France (M.-C.M., M.S.); the Department of Dermatology, Wake Forest Baptist Medical Center, Winston-Salem, NC (L.U., A.M.); and the Dermatology Department, Nelson R. Mandela School of Medicine, University of KwaZulu-Natal, Durban, South Africa (N.C.D).

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http://www.nejm.org/doi/10.1056/NEJMoa1816614	Publisher Site
http://dx.doi.org/10.1056/NEJMoa1816614	DOI Listing

February 2019

Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.

Am J Hum Genet 2018 11 25;103(5):777-785. Epub 2018 Oct 25.

Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, 53127 Bonn, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183032	Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2018.09.011	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218848	PMC

November 2018

Intra- and Interfamilial Phenotype Variability Associated with Mutations in γ-Secretase Subunit-Encoding PSENEN.

Authors:

Jorge Frank Damian J Ralser Regina C Betz

J Invest Dermatol 2018 05 11;138(5):1215-1218. Epub 2017 Nov 11.

Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.

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http://dx.doi.org/10.1016/j.jid.2017.09.050	DOI Listing

May 2018

Genome-Wide MicroRNA Analysis Implicates miR-30b/d in the Etiology of Alopecia Areata.

J Invest Dermatol 2018 03 6;138(3):549-556. Epub 2017 Dec 6.

Institute of Human Genetics, University of Bonn, Bonn, Germany; Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X173307	Publisher Site
http://dx.doi.org/10.1016/j.jid.2017.09.046	DOI Listing

March 2018

[Monilethrix is a hereditary hair shaft disorder].

Authors:

Andreas Ole Kirkegaard Regina C Betz Anette Bygum

Ugeskr Laeger 2017 Sep;179(37)

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September 2017

Parent-of-origin Effect in Alopecia Areata: A Large-scale Pedigree Study.

Authors:

Silke Redler F Buket Ü Basmanav Bettina Blaumeiser Natalie Garcia Bartels Gerhard Lutz Aylar Tafazzoli Roland Kruse Hans Wolff Markus Böhm Ulrike Blume-Peytavi Tim Becker Markus M Nöthen Regina C Betz

Acta Derm Venereol 2017 Jul;97(7):862-863

Heinrich-Heine-University, Medical Faculty, , Institute of Human Genetics, , 40225 Düsseldorf, Germany.

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http://dx.doi.org/10.2340/00015555-2658	DOI Listing

July 2017

Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2.

Exp Dermatol 2017 06 23;26(6):536-541. Epub 2017 Mar 23.

Institute of Human Genetics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1111/exd.13123	DOI Listing

June 2017

Genetics and other factors in the aetiology of female pattern hair loss.

Authors:

Silke Redler Andrew G Messenger Regina C Betz

Exp Dermatol 2017 06;26(6):510-517

Institute of Human Genetics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1111/exd.13373	DOI Listing

June 2017

Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3.

Authors:

Chao-Kai Hsu Maria Teresa Romano Arti Nanda Ellie Rashidghamat John Y W Lee Hsin-Yu Huang Chankiat Songsantiphap Julia Yu-Yun Lee Hejab Al-Ajmi Regina C Betz Michael A Simpson John A McGrath Christos Tziotzios

J Invest Dermatol 2017 05 10;137(5):1176-1179. Epub 2017 Jan 10.

St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK.

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http://dx.doi.org/10.1016/j.jid.2016.12.015	DOI Listing

May 2017

Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study.

Authors:

Philip C Haycock Stephen Burgess Aayah Nounu Jie Zheng George N Okoli Jack Bowden Kaitlin Hazel Wade Nicholas J Timpson David M Evans Peter Willeit Abraham Aviv Tom R Gaunt Gibran Hemani Massimo Mangino Hayley Patricia Ellis Kathreena M Kurian Karen A Pooley Rosalind A Eeles Jeffrey E Lee Shenying Fang Wei V Chen Matthew H Law Lisa M Bowdler Mark M Iles Qiong Yang Bradford B Worrall Hugh Stephen Markus Rayjean J Hung Chris I Amos Amanda B Spurdle Deborah J Thompson Tracy A O'Mara Brian Wolpin Laufey Amundadottir Rachael Stolzenberg-Solomon Antonia Trichopoulou N Charlotte Onland-Moret Eiliv Lund Eric J Duell Federico Canzian Gianluca Severi Kim Overvad Marc J Gunter Rosario Tumino Ulrika Svenson Andre van Rij Annette F Baas Matthew J Bown Nilesh J Samani Femke N G van t'Hof Gerard Tromp Gregory T Jones Helena Kuivaniemi James R Elmore Mattias Johansson James Mckay Ghislaine Scelo Robert Carreras-Torres Valerie Gaborieau Paul Brennan Paige M Bracci Rachel E Neale Sara H Olson Steven Gallinger Donghui Li Gloria M Petersen Harvey A Risch Alison P Klein Jiali Han Christian C Abnet Neal D Freedman Philip R Taylor John M Maris Katja K Aben Lambertus A Kiemeney Sita H Vermeulen John K Wiencke Kyle M Walsh Margaret Wrensch Terri Rice Clare Turnbull Kevin Litchfield Lavinia Paternoster Marie Standl Gonçalo R Abecasis John Paul SanGiovanni Yong Li Vladan Mijatovic Yadav Sapkota Siew-Kee Low Krina T Zondervan Grant W Montgomery Dale R Nyholt David A van Heel Karen Hunt Dan E Arking Foram N Ashar Nona Sotoodehnia Daniel Woo Jonathan Rosand Mary E Comeau W Mark Brown Edwin K Silverman John E Hokanson Michael H Cho Jennie Hui Manuel A Ferreira Philip J Thompson Alanna C Morrison Janine F Felix Nicholas L Smith Angela M Christiano Lynn Petukhova Regina C Betz Xing Fan Xuejun Zhang Caihong Zhu Carl D Langefeld Susan D Thompson Feijie Wang Xu Lin David A Schwartz Tasha Fingerlin Jerome I Rotter Mary Frances Cotch Richard A Jensen Matthias Munz Henrik Dommisch Arne S Schaefer Fang Han Hanna M Ollila Ryan P Hillary Omar Albagha Stuart H Ralston Chenjie Zeng Wei Zheng Xiao-Ou Shu Andre Reis Steffen Uebe Ulrike Hüffmeier Yoshiya Kawamura Takeshi Otowa Tsukasa Sasaki Martin Lloyd Hibberd Sonia Davila Gang Xie Katherine Siminovitch Jin-Xin Bei Yi-Xin Zeng Asta Försti Bowang Chen Stefano Landi Andre Franke Annegret Fischer David Ellinghaus Carlos Flores Imre Noth Shwu-Fan Ma Jia Nee Foo Jianjun Liu Jong-Won Kim David G Cox Olivier Delattre Olivier Mirabeau Christine F Skibola Clara S Tang Merce Garcia-Barcelo Kai-Ping Chang Wen-Hui Su Yu-Sun Chang Nicholas G Martin Scott Gordon Tracey D Wade Chaeyoung Lee Michiaki Kubo Pei-Chieng Cha Yusuke Nakamura Daniel Levy Masayuki Kimura Shih-Jen Hwang Steven Hunt Tim Spector Nicole Soranzo Ani W Manichaikul R Graham Barr Bratati Kahali Elizabeth Speliotes Laura M Yerges-Armstrong Ching-Yu Cheng Jost B Jonas Tien Yin Wong Isabella Fogh Kuang Lin John F Powell Kenneth Rice Caroline L Relton Richard M Martin George Davey Smith

JAMA Oncol 2017 May;3(5):636-651

MRC Integrative Epidemiology Unit, University of Bristol, Bristol, England2School of Social and Community Medicine, University of Bristol, Bristol, England.

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http://dx.doi.org/10.1001/jamaoncol.2016.5945	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5638008	PMC

May 2017

Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.

Authors:

Damian J Ralser F Buket Ü Basmanav Aylar Tafazzoli Jade Wititsuwannakul Sarah Delker Sumita Danda Holger Thiele Sabrina Wolf Michélle Busch Susanne A Pulimood Janine Altmüller Peter Nürnberg Didier Lacombe Uwe Hillen Jörg Wenzel Jorge Frank Benjamin Odermatt Regina C Betz

J Clin Invest 2017 Apr 13;127(4):1485-1490. Epub 2017 Mar 13.

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http://dx.doi.org/10.1172/JCI90667	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5373890	PMC

April 2017

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.

Am J Hum Genet 2016 Dec 17;99(6):1292-1304. Epub 2016 Nov 17.

Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.10.004	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142115	PMC

December 2016

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.

Am J Hum Genet 2016 Aug 28;99(2):337-51. Epub 2016 Jul 28.

Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany; Center for Hereditary Tumor Syndromes, University of Bonn, 53127 Bonn, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.06.015	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974087	PMC

August 2016

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.

Authors:

Alrun Hotz Vinzenz Oji Emmanuelle Bourrat Nathalie Jonca Juliette Mazereeuw-Hautier Regina C Betz Ulrike Blume-Peytavi Karola Stieler Fanny Morice-Picard Ines Schönbuchner Susanne Markus Nina Schlipf Judith Fischer

Acta Derm Venereol 2016 May;96(4):473-8

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

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http://dx.doi.org/10.2340/00015555-2299	DOI Listing

May 2016

Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.

Authors:

Kathrin A Giehl Thomas Herzinger Hans Wolff Miklós Sárdy Tanja von Braunmühl Valérie Dekeuleneer Yves Sznajer Dominique Tennstedt Pascaline Boes Stefan Rapprich Nicola Wagner Regina C Betz Markus Braun-Falco Tim Strom Thomas Ruzicka Gertrud N Eckstein

Acta Derm Venereol 2016 May;96(4):468-72

Department of Dermatology, Ludwig-Maximilian University, Munich, Germany.

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http://dx.doi.org/10.2340/00015555-2304	DOI Listing

May 2016

A Novel Locus for Ectodermal Dysplasia of Hair, Nail and Skin Pigmentation Anomalies Maps to Chromosome 18p11.32-p11.31.

Authors:

Rabia Habib Muhammad Ansar Manuel Mattheisen Muhammad Shahid Ghazanfar Ali Wasim Ahmad Regina C Betz

PLoS One 2015 26;10(6):e0129811. Epub 2015 Jun 26.

Institute of Human Genetics, University of Bonn, Bonn, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0129811	PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4483272	PMC

April 2016

Oculocutaneous tyrosinemia: A case report with delayed diagnosis and excellent response to dietary modification.

Authors:

Burak Tekin Deniz Yucelten Cigdem A Zeybek Ertugrul Kiykim Maria Wehner Regina C Betz Ayse E Toker

Indian J Dermatol Venereol Leprol 2015 May-Jun;81(3):303-5

Department of Dermatology, Marmara University School of Medicine, Istanbul, Turkey.

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http://search.proquest.com/openview/db170f14816ae58afc052934	Web Search
http://www.ijdvl.com/text.asp?2015/81/3/303/152744	Publisher Site
http://dx.doi.org/10.4103/0378-6323.152744	DOI Listing

February 2016

Familial primary localized cutaneous amyloidosis results from either dominant or recessive mutations in OSMR.

Authors:

Abdul Wali Lu Liu Takuya Takeichi Musharraf Jelani Obaid Ur Rahman Yee Kiat Heng Steven Thng Joyce Lee Masashi Akiyama John A McGrath Regina C Betz

Acta Derm Venereol 2015 Nov;95(8):1005-7

Institute of Human Genetics, University of Bonn, DE-53127 Bonn, Germany.

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http://www.medicaljournals.se/acta/content/?doi=10.2340/0001	Publisher Site
http://dx.doi.org/10.2340/00015555-2104	DOI Listing

November 2015

Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.

Authors:

Benjamin Gollasch Fitnat Buket Basmanav Arti Nanda Günter Fritz Hassnaa Mahmoudi Holger Thiele Maria Wehner Sabrina Wolf Janine Altmüller Peter Nürnberg Jorge Frank Regina C Betz

Am J Med Genet A 2015 Nov 30;167A(11):2555-62. Epub 2015 Jun 30.

Institute of Human Genetics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37233	DOI Listing

November 2015

Immunochip-based analysis: high-density genotyping of immune-related loci sheds further light on the autoimmune genetic architecture of alopecia areata.

J Invest Dermatol 2015 Mar 22;135(3):919-921. Epub 2014 Oct 22.

Institute of Human Genetics, University of Bonn, Bonn, Germany. Electronic address:

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http://dx.doi.org/10.1038/jid.2014.459	DOI Listing

March 2015

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.

Authors:

Paulien A Terhal Rutger Jan A J Nievelstein Eva J J Verver Vedat Topsakal Paula van Dommelen Kristien Hoornaert Martine Le Merrer Andreas Zankl Marleen E H Simon Sarah F Smithson Carlo Marcelis Bronwyn Kerr Jill Clayton-Smith Esther Kinning Sahar Mansour Frances Elmslie Linda Goodwin Annemarie H van der Hout Hermine E Veenstra-Knol Johanna C Herkert Allan M Lund Raoul C M Hennekam André Mégarbané Melissa M Lees Louise C Wilson Alison Male Jane Hurst Yasemin Alanay Göran Annerén Regina C Betz Ernie M H F Bongers Valerie Cormier-Daire Anne Dieux Albert David Mariet W Elting Jenneke van den Ende Andrew Green Johanna M van Hagen Niels Thomas Hertel Muriel Holder-Espinasse Nicolette den Hollander Tessa Homfray Hanne D Hove Susan Price Annick Raas-Rothschild Marianne Rohrbach Barbara Schroeter Mohnish Suri Elizabeth M Thompson Edward S Tobias Annick Toutain Maaike Vreeburg Emma Wakeling Nine V Knoers Paul Coucke Geert R Mortier

Am J Med Genet A 2015 Mar 21;167A(3):461-75. Epub 2015 Jan 21.

Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.36922	DOI Listing

March 2015

Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura.

Authors:

F Buket Basmanav Günter Fritz Gilles G Lestringant Divya Pachat Sabine Hoffjan Johannes Fischer Maria Wehner Sabrina Wolf Holger Thiele Janine Altmüller Susanne A Pulimood Arno Rütten Roland Kruse Sandra Hanneken Jorge Frank Sumita Danda Anette Bygum Regina C Betz

J Invest Dermatol 2015 Feb 17;135(2):615-618. Epub 2014 Sep 17.

Institute of Human Genetics, University of Bonn, Bonn, Germany. Electronic address:

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http://dx.doi.org/10.1038/jid.2014.406	DOI Listing

February 2015

Lysophosphatidic acid receptor LPAR6 supports the tumorigenicity of hepatocellular carcinoma.

Authors:

Antonio Mazzocca Francesco Dituri Flavia De Santis Addolorata Filannino Chiara Lopane Regina C Betz Ying-Yi Li Naofumi Mukaida Peter Winter Cosimo Tortorella Gianluigi Giannelli Carlo Sabbà

Cancer Res 2015 Feb 14;75(3):532-43. Epub 2015 Jan 14.

Interdisciplinary Department of Medicine, University of Bari School of Medicine, Bari, Italy.

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http://cancerres.aacrjournals.org/content/75/3/532.full.pdf	Web Search
http://cancerres.aacrjournals.org/cgi/doi/10.1158/0008-5472.	Publisher Site
http://dx.doi.org/10.1158/0008-5472.CAN-14-1607	DOI Listing

February 2015

Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci.

Nat Commun 2015 Jan 22;6:5966. Epub 2015 Jan 22.

Department of Dermatology, Columbia University, NY, NY.

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http://dx.doi.org/10.1038/ncomms6966	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4451186	PMC

January 2015

Alopecia and hypotrichosis as characteristic findings in Woodhouse-Sakati syndrome: report of a family with mutation in the C2orf37 gene.

Authors:

Arti Nanda Sandra M Pasternack Hassnaa Mahmoudi Nina Ishorst Ramon Grimalt Regina C Betz

Pediatr Dermatol 2014 Jan-Feb;31(1):83-7. Epub 2013 Sep 9.

As'ad Al-Hamad Dermatology Center, Al-Sabah Hospital, Kuwait City, Kuwait.

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http://dx.doi.org/10.1111/pde.12219	DOI Listing

September 2014

The First Report of KRT5 Mutation Underlying Acantholytic Dowling-Degos Disease with Mottled Hypopigmentation in an Indian Family.

Authors:

Shyam Verma Sandra M Pasternack Arno Rütten Thomas Ruzicka Regina C Betz Sandra Hanneken

Indian J Dermatol 2014 Sep;59(5):476-80

Department of Dermatology, University of Düsseldorf, Medical Faculty, D-40225 Düsseldorf, Germany.

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http://dx.doi.org/10.4103/0019-5154.139884	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4171917	PMC

September 2014

Investigation of four novel male androgenetic alopecia susceptibility loci: no association with female pattern hair loss.

Arch Dermatol Res 2014 May 19;306(4):413-8. Epub 2013 Dec 19.

Institute of Human Genetics, University of Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany.

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http://dx.doi.org/10.1007/s00403-013-1436-4	DOI Listing

May 2014

Odd-looking hair and progressive alopecia in mother and son.

Authors:

Annette Kolb-Mäurer Regina C Betz Henning Hamm

JAMA Dermatol 2014 May;150(5):567-8

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http://dx.doi.org/10.1001/jamadermatol.2013.8078	DOI Listing

May 2014

Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.

Am J Hum Genet 2014 Jan;94(1):135-43

Institute of Human Genetics, University of Bonn, D-53127 Bonn, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.12.003	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3882728	PMC

January 2014

Investigation of six novel susceptibility loci for male androgenetic alopecia in women with female pattern hair loss.

J Dermatol Sci 2013 Nov 16;72(2):186-8. Epub 2013 Jul 16.

Institute of Human Genetics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1016/j.jdermsci.2013.06.012	DOI Listing

November 2013

Androgenetic alopecia: identification of four genetic risk loci and evidence for the contribution of WNT signaling to its etiology.

J Invest Dermatol 2013 Jun 28;133(6):1489-96. Epub 2013 Jan 28.

Institute of Human Genetics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/jid.2013.43	DOI Listing

June 2013

Selected variants of the melanocortin 4 receptor gene (MC4R) do not confer susceptibility to female pattern hair loss.

Authors:

Hassnaa Mahmoudi Silke Redler Pattie Birch Dmitriy Drichel Kathy Dobson Rachid Tazi-Ahnini Peter Teßmann Kathrin A Giehl Roland Kruse Gerhard Lutz Sandra Hanneken Hans Wolff Ulrike Blume-Peytavi Tim Becker Markus M Nöthen Andrew G Messenger Markus Böhm Regina C Betz

Arch Dermatol Res 2013 Apr 5;305(3):249-53. Epub 2012 Nov 5.

Institute of Human Genetics, University of Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany.

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http://dx.doi.org/10.1007/s00403-012-1296-3	DOI Listing

April 2013

Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.

Authors:

Sandra M Pasternack Melanie Refke Elham Paknia Hans Christian Hennies Thomas Franz Niklas Schäfer Alan Fryer Maurice van Steensel Elizabeth Sweeney Miquel Just Clemens Grimm Roland Kruse Carlos Ferrándiz Markus M Nöthen Utz Fischer Regina C Betz

Am J Hum Genet 2013 Jan 13;92(1):81-7. Epub 2012 Dec 13.

Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.

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http://dx.doi.org/10.1016/j.ajhg.2012.10.022	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3542472	PMC

January 2013

Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia.

Authors:

Zhimiao Lin Quan Chen Lei Shi Mingyang Lee Kathrin A Giehl Zhanli Tang Huijun Wang Jie Zhang Jinghua Yin Lingshen Wu Ruo Xiao Xuanzhu Liu Lanlan Dai Xuejun Zhu Ruoyu Li Regina C Betz Xue Zhang Yong Yang

Am J Hum Genet 2012 Nov 11;91(5):906-11. Epub 2012 Oct 11.

Department of Dermatology, Peking University First Hospital, Beijing, China.

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http://dx.doi.org/10.1016/j.ajhg.2012.08.029	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3487122	PMC

November 2012

Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.

Authors:

Kathrin A Giehl Gertrud N Eckstein Sandra M Pasternack Silke Praetzel-Wunder Thomas Ruzicka Peter Lichtner Kerstin Seidl Mike Rogers Elisabeth Graf Lutz Langbein Markus Braun-Falco Regina C Betz Tim M Strom

Am J Hum Genet 2012 Oct 20;91(4):754-9. Epub 2012 Sep 20.

Center for Rare and Genetic Skin Diseases, Department of Dermatology, Ludwig Maximilians University, 80337 Munich, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S00029297120046	Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2012.08.024	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3484507	PMC

October 2012

Follow-up study of the first genome-wide association scan in alopecia areata: IL13 and KIAA0350 as susceptibility loci supported with genome-wide significance.

J Invest Dermatol 2012 Sep 26;132(9):2192-7. Epub 2012 Apr 26.

Institute of Human Genetics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/jid.2012.129	DOI Listing

September 2012

Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature.

Authors:

Matthias Begemann Sabrina Spengler Magdalena Gogiel Ute Grasshoff Michael Bonin Regina C Betz Andreas Dufke Isabel Spier Thomas Eggermann

J Med Genet 2012 Sep 26;49(9):547-53. Epub 2012 Jul 26.

Institute of Human Genetics, RWTH Aachen, Aachen, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2012-100967	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3439641	PMC

September 2012

Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.

Am J Med Genet C Semin Med Genet 2012 Aug 12;160C(3):205-16. Epub 2012 Jul 12.

Department of Biomedical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.c.31332	DOI Listing

August 2012

Galli-Galli disease is an acantholytic variant of Dowling-Degos disease: additional genetic evidence in a German family.

Authors:

Astrid Schmieder Sandra M Pasternack Dieter Krahl Regina C Betz Martin Leverkus

J Am Acad Dermatol 2012 Jun;66(6):e250-1

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http://dx.doi.org/10.1016/j.jaad.2011.07.038	DOI Listing

June 2012

Identification of an Alu-mediated 12.2-kb deletion of the complete LPAR6 (P2RY5) gene in a Turkish family with hypotrichosis and woolly hair.

Authors:

Hassnaa Mahmoudi Esra Tug Ali Haydar Parlak Halil Ibrahim Atasoy Michael Ludwig Mualla Polat Sandra M Pasternack Regina C Betz

Exp Dermatol 2012 Jun;21(6):469-71

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http://dx.doi.org/10.1111/j.1600-0625.2012.01504.x	DOI Listing

June 2012

Selected variants of the steroid-5-alpha-reductase isoforms SRD5A1 and SRD5A2 and the sex steroid hormone receptors ESR1, ESR2 and PGR: no association with female pattern hair loss identified.

Authors:

Silke Redler Rachid Tazi-Ahnini Dmitriy Drichel Mary P Birch Felix F Brockschmidt Kathy Dobson Kathrin A Giehl Melanie Refke Nadine Kluck Roland Kruse Gerhard Lutz Hans Wolff Markus Böhm Tim Becker Markus M Nöthen Regina C Betz Andrew Messenger

Exp Dermatol 2012 May;21(5):390-3

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http://dx.doi.org/10.1111/j.1600-0625.2012.01469.x	DOI Listing

May 2012

Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata.

Eur J Hum Genet 2012 Mar 26;20(3):326-32. Epub 2011 Oct 26.

Institute of Human Genetics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/ejhg.2011.185	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3283178	PMC

March 2012

Unveiling the roots of monogenic genodermatoses: genotrichoses as a paradigm.

Authors:

Regina C Betz Rita M Cabral Angela M Christiano Eli Sprecher

J Invest Dermatol 2012 Mar 15;132(3 Pt 2):906-14. Epub 2011 Dec 15.

Institute of Human Genetics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/jid.2011.408	DOI Listing

March 2012

The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease.

Authors:

Martina Minnerop Bernd Weber Jan-Christoph Schoene-Bake Sandra Roeske Sandra Mirbach Christian Anspach Christiane Schneider-Gold Regina C Betz Christoph Helmstaedter Marc Tittgemeyer Thomas Klockgether Cornelia Kornblum

Brain 2011 Dec 29;134(Pt 12):3530-46. Epub 2011 Nov 29.

Department of Neurology, University Hospital of Bonn, 53105 Bonn, Germany

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http://dx.doi.org/10.1093/brain/awr299	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3235566	PMC

December 2011

Tyrosinemia type II (Richner-Hanhart syndrome): a new mutation in the TAT gene.

Authors:

Vida Culic Regina C Betz Melanie Refke Ksenija Fumic Jasminka Pavelic

Eur J Med Genet 2011 May-Jun;54(3):205-8. Epub 2010 Dec 9.

University Hospital Split, Department of Pediatrics, Division for Medical Genetics, Spinčićeva 1, 21000 Split, Croatia.

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http://dx.doi.org/10.1016/j.ejmg.2010.11.013	DOI Listing

September 2011

Generalized solar lentigines in a patient with a history of radon exposure.

Authors:

Andreas Mauerer Regina C Betz Sandra M Pasternack Michael Landthaler Christian Hafner

Dermatology 2010 ;221(3):206-10

Department of Dermatology, University of Regensburg, Regensburg, Germany.

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http://dx.doi.org/10.1159/000316091	DOI Listing

August 2011

Genetic variants in CTLA4 are strongly associated with alopecia areata.

Authors:

Karsten K-G John Felix F Brockschmidt Silke Redler Christine Herold Sandra Hanneken Sibylle Eigelshoven Kathrin A Giehl Jozef De Weert Gerhard Lutz Roland Kruse Hans Wolff Bettina Blaumeiser Markus Böhm Tim Becker Markus M Nöthen Regina C Betz

J Invest Dermatol 2011 May 24;131(5):1169-72. Epub 2011 Feb 24.

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http://dx.doi.org/10.1038/jid.2010.427	DOI Listing

May 2011

Marie Unna hereditary hypotrichosis: identification of a U2HR mutation in the family from the original 1925 report.

Authors:

Silke Redler Roland Kruse Sibylle Eigelshoven Sandra Hanneken Melanie Refke Yaran Wen Xue Zhang Sven Cichon Regina C Betz Markus M Nöthen

J Am Acad Dermatol 2011 Apr 24;64(4):e45-50. Epub 2010 Jul 24.

Institute of Human Genetics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1016/j.jaad.2010.06.013	DOI Listing

April 2011

Efficacy of ablative laser treatment in Galli-Galli disease.

Authors:

Harald Voth Jennifer Landsberg Guenter Reinhard Melanie Refke Regina C Betz Thomas Bieber Joerg Wenzel

Arch Dermatol 2011 Mar;147(3):317-20

Department of Dermatology and Allergy, University of Bonn, Germany.

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http://archderm.jamanetwork.com/article.aspx?doi=10.1001/arc	Publisher Site
http://dx.doi.org/10.1001/archdermatol.2011.3	DOI Listing

March 2011

Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.

Authors:

Eva Klopocki Silke Lohan Francesco Brancati Randi Koll Anja Brehm Petra Seemann Katarina Dathe Sigmar Stricker Jochen Hecht Kristin Bosse Regina C Betz Francesco Giuseppe Garaci Bruno Dallapiccola Mahim Jain Maximilian Muenke Vivian C W Ng Wilson Chan Danny Chan Stefan Mundlos

Am J Hum Genet 2011 Jan 17;88(1):70-5. Epub 2010 Dec 17.

Institute for Medical Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.

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http://dx.doi.org/10.1016/j.ajhg.2010.11.006	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3014361	PMC

January 2011

Marie Unna hereditary hypotrichosis: a Turkish family with loss of eyebrows and a U2HR mutation.

Authors:

Ayse Tulin Mansur Nursel H Elcioglu Silke Redler Zehra A Serdar Sule Cetinel Regina C Betz Nurten A Akarsu

Am J Med Genet A 2010 Oct;152A(10):2628-33

Dermatology Clinic, Haydarpasa Numune Training and Research Hospital, and Department of Pediatric Genetics, Marmara University Medical Faculty, Istanbul, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.33649	DOI Listing

October 2010

A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin.

Authors:

Cécile Caubet Luc Bousset Ole Clemmensen Yannick Sourigues Anette Bygum Stéphane Chavanas Fanny Coudane Chiung-Yueh Hsu Regina C Betz Ronald Melki Michel Simon Guy Serre

FASEB J 2010 Sep 6;24(9):3416-26. Epub 2010 May 6.

UMR5165 Centre National de la Recherche Scientifique - University of Toulouse III, Toulouse, France.

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http://www.fasebj.org/content/24/9/3416.full.pdf	Web Search
http://www.fasebj.org/cgi/doi/10.1096/fj.10-155622	Publisher Site
http://dx.doi.org/10.1096/fj.10-155622	DOI Listing

September 2010

In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth.

Authors:

Sandra M Pasternack Ivar von Kügelgen Melanie Müller Vinzenz Oji Heiko Traupe Eli Sprecher Markus M Nöthen Andreas R Janecke Regina C Betz

J Invest Dermatol 2009 Dec 18;129(12):2772-6. Epub 2009 Jun 18.

Institute of Human Genetics, University of Bonn, Bonn D-53111, Germany.

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http://dx.doi.org/10.1038/jid.2009.154	DOI Listing

December 2009

Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair.

Authors:

Sandra M Pasternack Sundaram Murugusundram Sibylle Eigelshoven Melanie Müller Roland Kruse Percy Lehmann Regina C Betz

Arch Dermatol Res 2009 Sep 16;301(8):621-4. Epub 2009 Jun 16.

Institute of Human Genetics, University of Bonn, 53111 Bonn, Germany.

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http://dx.doi.org/10.1007/s00403-009-0971-5	DOI Listing

September 2009

A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families.

Authors:

Sagi Nahum Sandra M Pasternack Jana Pforr Margarita Indelman Bernd Wollnik Reuven Bergman Markus M Nöthen Arne König Ziyad Khamaysi Regina C Betz Eli Sprecher

Arch Dermatol Res 2009 Jun 27;301(5):391-3. Epub 2008 Sep 27.

Laboratory of Molecular Dermatology, Department of Dermatology, Rambam Medical Center, Rambam Health Care Campus, POB 9602, 31096, Haifa, Israel.

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http://link.springer.com/content/pdf/10.1007/s00403-008-0903	Web Search
http://link.springer.com/10.1007/s00403-008-0903-9	Publisher Site
http://dx.doi.org/10.1007/s00403-008-0903-9	DOI Listing

June 2009

IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.

Authors:

Frank Oeffner Gayle Fischer Rudolf Happle Arne König Regina C Betz Dorothea Bornholdt Ulrike Neidel María del Carmen Boente Silke Redler Javier Romero-Gomez Aïcha Salhi Angel Vera-Casaño Christian Weirich Karl-Heinz Grzeschik

Am J Hum Genet 2009 Apr;84(4):459-67

Department of Human Genetics, Philipps-Universität, Marburg 35037, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S000292970900111	Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2009.03.014	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2667992	PMC

April 2009

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.

Nat Genet 2009 Feb 4;41(2):228-33. Epub 2009 Jan 4.

McKusick-Zhang Center for Genetic Medicine and National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100005, China.

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http://www.nature.com/doifinder/10.1038/ng.276	Publisher Site
http://dx.doi.org/10.1038/ng.276	DOI Listing

February 2009

Susceptibility variants for male-pattern baldness on chromosome 20p11.

Nat Genet 2008 Nov 12;40(11):1279-81. Epub 2008 Oct 12.

Department of Genomics, Life & Brain Center, University of Bonn, D-53127 Bonn, Germany.

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http://dx.doi.org/10.1038/ng.228	DOI Listing

November 2008

Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type?

Authors:

Mahim Jain Deeann Wallis Nathaniel H Robin Fabienne Wavrant De Vrieze John A Hardy Mohsen Ghadami Kristin Bosse Regina C Betz Markus M Nöthen Mauricio Arcos-Burgos Maximilian Muenke

Am J Med Genet A 2008 Sep;146A(17):2308-11

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.a.32445	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2774842	PMC

September 2008

G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth.

Authors:

Sandra M Pasternack Ivar von Kügelgen Khalid Al Aboud Young-Ae Lee Franz Rüschendorf Katrin Voss Axel M Hillmer Gerhard J Molderings Thomas Franz Alfredo Ramirez Peter Nürnberg Markus M Nöthen Regina C Betz

Nat Genet 2008 Mar 24;40(3):329-34. Epub 2008 Feb 24.

Institute of Human Genetics, University of Bonn, Bonn 53111, Germany.

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http://dx.doi.org/10.1038/ng.84	DOI Listing

March 2008

Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26.

Authors:

Axel M Hillmer Antonia Flaquer Sandra Hanneken Sibylle Eigelshoven Anne-Katrin Kortüm Felix F Brockschmidt Astrid Golla Christine Metzen Holger Thiele Susanne Kolberg Roman Reinartz Regina C Betz Thomas Ruzicka Hans Christian Hennies Roland Kruse Markus M Nöthen

Am J Hum Genet 2008 Mar 21;82(3):737-43. Epub 2008 Feb 21.

Department of Genomics, Life and Brain Center, University of Bonn, D-53127 Bonn, Germany.

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http://dx.doi.org/10.1016/j.ajhg.2007.11.014	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427264	PMC

March 2008

Identification of a keratin-associated protein with a putative role in vesicle transport.

Authors:

Laura Planko Karsten Böhse Jörg Höhfeld Regina C Betz Sandra Hanneken Sibylle Eigelshoven Roland Kruse Markus M Nöthen Thomas M Magin

Eur J Cell Biol 2007 Dec 29;86(11-12):827-39. Epub 2007 Mar 29.

Institut für Physiologische Chemie, Abteilung für Zellbiochemie, Bonner Forum Biomedizin und LIMES, Rheinische Friedrich-Wilhelms-Universität, Nussallee 11, D-53115 Bonn, Germany.

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http://dx.doi.org/10.1016/j.ejcb.2007.02.004	DOI Listing

December 2007

Loss-of-function mutations in the filaggrin gene and alopecia areata: strong risk factor for a severe course of disease in patients comorbid for atopic disease.

Authors:

Regina C Betz Jana Pforr Antonia Flaquer Silke Redler Sandra Hanneken Sibylle Eigelshoven Anne-Katrin Kortüm Thomas Tüting Julien Lambert Jozef De Weert Axel M Hillmer Christine Schmael Thomas F Wienker Roland Kruse Gerhard Lutz Bettina Blaumeiser Markus M Nöthen

J Invest Dermatol 2007 Nov 21;127(11):2539-43. Epub 2007 Jun 21.

Institute of Human Genetics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/sj.jid.5700915	DOI Listing

November 2007

Identification of mutations in the human hairless gene in two new families with congenital atrichia.

Authors:

Regina C Betz Margarita Indelman Jana Pforr Felix Schreiner Ralf Bauer Reuven Bergman Michael J Lentze Markus M Nöthen Sven Cichon Eli Sprecher

Arch Dermatol Res 2007 Jun 20;299(3):157-61. Epub 2007 Mar 20.

Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, Bonn, Germany.

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http://dx.doi.org/10.1007/s00403-007-0747-8	DOI Listing

June 2007

Investigation of the HLA-DRB1 locus in alopecia areata.

Authors:

Patricia Entz Bettina Blaumeiser Regina C Betz Julien Lambert Katia Seymons Sibylle Eigelshoven Sandra Hanneken Roland Kruse Peter Nürnberg Marion Nagy Markus M Nöthen

Eur J Dermatol 2006 Jul-Aug;16(4):363-7

Institute for Legal Medicine, Charité University Hospital, Berlin, Germany.

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March 2007

Family-based association study of the MTHFR polymorphism C677T in the bladder-exstrophy-epispadias-complex.

Authors:

Heiko Reutter Tim Becker Michael Ludwig Niklas Schäfer Birte Detlefsen Sylvie Beaudoin Margit Fisch Anne-Karoline Ebert Wolfgang Rösch Markus M Nöthen Thomas M Boemers Regina C Betz

Am J Med Genet A 2006 Nov;140(22):2506-9

Department of Human Genetics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1002/ajmg.a.31484	DOI Listing

November 2006

MTHFR 677 TT genotype in a mother and her child with Down syndrome, atrioventricular canal and exstrophy of the bladder: implications of a mutual genetic risk factor?

Authors:

Heiko Reutter Regina C Betz Michael Ludwig Thomas M Boemers

Eur J Pediatr 2006 Aug 7;165(8):566-8. Epub 2006 Apr 7.

Institute of Human Genetics, University of Bonn, Wilhelmstr. 31, 53111, Bonn, and Department of Pediatric Surgery and Pediatric Urology, Children's Hospital, Köln, Germany.

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