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Andreas R. Janecke
Researcher at Innsbruck Medical University
Publications - 190
Citations - 10437
Andreas R. Janecke is an academic researcher from Innsbruck Medical University. The author has contributed to research in topics: Missense mutation & Compound heterozygosity. The author has an hindex of 54, co-authored 180 publications receiving 9236 citations. Previous affiliations of Andreas R. Janecke include University of Hamburg & University of California, San Diego.
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Journal ArticleDOI
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.
Aileen Sandilands,Ana Terron-Kwiatkowski,Peter R. Hull,Grainne M. O'Regan,Timothy H Clayton,Rosemarie Watson,Thomas Carrick,Alan Evans,Haihui Liao,Yiwei Zhao,Linda E. Campbell,Matthias Schmuth,Robert Gruber,Andreas R. Janecke,Peter M. Elias,Maurice A.M. van Steensel,Ivo F Nagtzaam,Michel van Geel,Peter M. Steijlen,Colin S. Munro,Daniel G. Bradley,Colin N. A. Palmer,Frances J.D. Smith,W.H. Irwin McLean,Alan D. Irvine,Alan D. Irvine +25 more
TL;DR: It is shown that the common filaggrin (FLG) null mutations that cause ichthyosis vulgaris and predispose to eczema and secondary allergic diseases are ancestral variants carried on conserved haplotypes, and a strategy for full sequencing of this large, highly repetitive gene is reported.
Journal ArticleDOI
GJB2 mutations and degree of hearing loss: a multicenter study.
Rikkert L. Snoeckx,Patrick L. M. Huygen,Delphine Feldmann,Sandrine Marlin,Françoise Denoyelle,Jaroslaw Waligora,Małgorzata Mueller-Malesińska,Agneszka Pollak,Rafał Płoski,Alessandra Murgia,Eva Orzan,Pierangela Castorina,Umberto Ambrosetti,Ewa Nowakowska-Szyrwinska,Jerzy Bal,Wojciech Wiszniewski,Andreas R. Janecke,Doris Nekahm-Heis,Pavel Seeman,O. Bendová,Margaret A. Kenna,Anna Frangulov,Heidi L. Rehm,Mustafa Tekin,Armagan Incesulu,Hans Henrik M. Dahl,Desirée du Sart,Lucy Jenkins,Deirdre Lucas,Maria Bitner-Glindzicz,Karen B. Avraham,Zippora Brownstein,Ignacio del Castillo,Felipe Moreno,Nikolaus Blin,Markus Pfister,István Sziklai,Tímea Tóth,Philip M. Kelley,Edward S. Cohn,Lionel Van Maldergem,Pascale Hilbert,Anne Françoise Roux,Michel Mondain,Lies H. Hoefsloot,Cor W. R. J. Cremers,Tuija Löppönen,Heikki Löppönen,Agnete Parving,Karen Grønskov,Iris Schrijver,Joseph B. Roberson,Francesca Gualandi,Alessandro Martini,Geneviève Lina-Granade,Nathalie Pallares-Ruiz,Céu Correia,Graça Fialho,Kim Cryns,Nele Hilgert,Paul Van de Heyning,Carla Nishimura,Richard J.H. Smith,Guy Van Camp +63 more
TL;DR: The association between genotype and degree of hearing loss in persons with HI and biallelic GJB2 mutations was assessed and two genotypes had significantly more-severe HI than that of 35delG homozygotes.
Journal ArticleDOI
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.
Lars Riff Jensen,Marion Amende,Ulf Gurok,Bettina Moser,Verena Gimmel,Andreas Tzschach,Andreas R. Janecke,Gholamali Tariverdian,Jamel Chelly,Jean-Pierre Fryns,Hilde Van Esch,Tjitske Kleefstra,Ben C.J. Hamel,Claude Moraine,Jozef Gecz,Gillian Turner,Richard Reinhardt,Vera M. Kalscheuer,Hans-Hilger Ropers,Steffen Lenzner +19 more
TL;DR: The results suggest that JARID1C mutations are a relatively common cause of XLMR and that this gene might play an important role in human brain function.
Journal ArticleDOI
p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation
Hans van Bokhoven,Ben C.J. Hamel,Michael J. Bamshad,Eugenio Sangiorgi,Fiorella Gurrieri,Pascal H.G. Duijf,Kaate R.J. Vanmolkot,Ellen van Beusekom,Sylvia E. C. van Beersum,Jacopo Celli,Gerard Merkx,Romano Tenconi,Jean Pierre Fryns,Alain Verloes,Ruth Newbury-Ecob,Annick Raas-Rotschild,Frank Majewski,Frits A. Beemer,Andreas R. Janecke,David Chitayat,Giangiorgio Crisponi,Hülya Kayserili,John R.W. Yates,Giovanni Neri,Han G. Brunner +24 more
TL;DR: In this paper, the p63 gene mutations were detected in almost all (40/43) individuals affected with EEC syndrome, in 35 individuals with nonsyndromic split hand-split foot malformation (SHFM), and in three families with the EEC-like condition limb-mammary syndrome (LMS), which is characterized by ectrodactyly, cleft palate, and mammary-gland abnormalities.
Journal ArticleDOI
Eculizumab for atypical hemolytic-uremic syndrome.
Jens Nürnberger,Thomas Philipp,Oliver Witzke,Anabelle Opazo Saez,Udo Vester,Hideo A. Baba,Andreas Kribben,Lothar Bernd Zimmerhackl,Andreas R. Janecke,Mato Nagel,Michael Kirschfink +10 more
TL;DR: A case of atypical hemolytic–uremic syndrome is reported that was successfully treated with eculizumab, a humanized monoclonal antibody that blocks complement activity by cleavage of the complement protein C5, thereby preventing the generation of the inflammatory.