N
Nadine Rosin
Researcher at University of Göttingen
Publications - 4
Citations - 510
Nadine Rosin is an academic researcher from University of Göttingen. The author has contributed to research in topics: Mutation & Compound heterozygosity. The author has an hindex of 3, co-authored 4 publications receiving 385 citations. Previous affiliations of Nadine Rosin include University of Cologne & Memorial Sloan Kettering Cancer Center.
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Journal ArticleDOI
The Transcription Factor ATF5 Mediates a Mammalian Mitochondrial UPR.
Christopher J. Fiorese,Anna M. Schulz,Yi-Fan Lin,Nadine Rosin,Mark W. Pellegrino,Cole M. Haynes,Cole M. Haynes,Cole M. Haynes +7 more
TL;DR: A mammalian transcription factor, ATF5, is described, which is regulated similarly to ATFS-1 and induces a similar transcriptional response to the mitochondrial unfolded protein response, suggesting that regulation of the UPR(mt) is conserved from worms to mammals.
Journal ArticleDOI
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
Christopher T. Gordon,Christopher T. Gordon,Shifeng Xue,Gökhan Yigit,Hicham Filali,Hicham Filali,Hicham Filali,Kelan Chen,Kelan Chen,Nadine Rosin,Koh-ichiro Yoshiura,Myriam Oufadem,Myriam Oufadem,Tamara Beck,Ruth McGowan,Alex Magee,Janine Altmüller,Camille Dion,Holger Thiele,Alexandra D. Gurzau,Alexandra D. Gurzau,Peter Nürnberg,Dieter Meschede,Wolfgang Mühlbauer,Nobuhiko Okamoto,Vinod Varghese,Rachel E A Irving,Sabine Sigaudy,Denise Williams,S Faisal Ahmed,Carine Bonnard,Mung Kei Kong,Ilham Ratbi,Nawfal Fejjal,Meriem Fikri,Siham Chafai Elalaoui,Hallvard Reigstad,Christine Bole-Feysot,Christine Bole-Feysot,Patrick Nitschké,Patrick Nitschké,Nicola K. Ragge,Nicolas Lévy,Gökhan Tunçbilek,Audrey S.M. Teo,Michael L. Cunningham,Abdelaziz Sefiani,Hülya Kayserili,James M. Murphy,James M. Murphy,Chalermpong Chatdokmaiprai,Axel M. Hillmer,Duangrurdee Wattanasirichaigoon,Stanislas Lyonnet,Stanislas Lyonnet,Stanislas Lyonnet,Frédérique Magdinier,Asif Javed,Marnie E. Blewitt,Marnie E. Blewitt,Jeanne Amiel,Jeanne Amiel,Jeanne Amiel,Bernd Wollnik,Bernd Wollnik,Bruno Reversade +65 more
TL;DR: It is reported here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied and biochemical insight into its enzymatic function is provided.
Journal ArticleDOI
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability
Nadine Rosin,Nursel Elcioglu,Filippo Beleggia,Pinar Isguven,Janine Altmüller,Holger Thiele,Katharina Steindl,Pascal Joset,Anita Rauch,Peter Nürnberg,Bernd Wollnik,Gökhan Yigit +11 more
TL;DR: Evidence is provided that autosomal recessive mutations in XRCC4 induce increased genomic instability and cause a NHEJ-related syndrome defined by facial dysmorphism, primary microcephaly and short stature, which results in increased cell death after exposure to genotoxic agents.
Journal ArticleDOI
Molekulare Grundlagen der autosomal-rezessiven primären Mikrozephalie
TL;DR: Autosomal recessive primary microcephaly is a genetically very heterogeneous disorder, mainly characterized by severe microCEphaly at birth, mental retardation of variable extent in the absence of any additional significant neurological findings, malformations, or growth anomalies.