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Sabine Endele

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Juliane Hoyer; Corinna Petsch; Bernt Popp; Gudrun Rappold; Anita Rauch; Andreas Dufke; Arif B Ekici; Sabine Endele; Hartmut Engels; Ina Göhring; Olaf Riess; Eva Rossier; Evelin Schröck; Dagmar Wieczorek; Antje Wiesener; Eva Wohlleber; Alexander M Zink; Christiane Zweier; Markus Zweier; André Reis
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.
Sabine Endele; Georg Rosenberger; Kirsten Geider; Bernt Popp; Ceyhun Tamer; Irina Stefanova; Mathieu Milh; Fanny Kortüm; Angela Fritsch; Friederike K Pientka; Yorck Hellenbroich; Vera M Kalscheuer; Juergen Kohlhase; Ute Moog; Gudrun Rappold; Anita Rauch; Hans-Hilger Ropers; Sarah von Spiczak; Holger Tönnies; Nathalie Villeneuve; Laurent Villard; Bernhard Zabel; Martin Zenker; Bodo Laube; André Reis; Dagmar Wieczorek; Lionel Van Maldergem; Kerstin Kutsche
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
Alejandro Leal; Kathrin Huehne; Finn Bauer; Heinrich Sticht; Philipp Berger; Ueli Suter; Bernal Morera; Gerardo Del Valle; James R Lupski; Arif B Ekici; Francesca Pasutto; Sabine Endele; Ramiro Barrantes; Corinna Berghoff; Martin Berghoff; Bernhard Neundörfer; Dieter Heuss; Thomas Dorn; Peter Young; Lisa Santolin; Thomas Uhlmann; Michael Meisterernst; Michael Werner Sereda; Michael Sereda; Ruth Martha Stassart; Klaus-Armin Nave; André Reis; Gerd Meyer zu Horste; Bernd Rautenstrauss
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.

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All Publications

2012: Juliane Hoyer; Corinna Petsch; Bernt Popp; Gudrun Rappold; Anita Rauch; Andreas Dufke; Arif B Ekici; Sabine Endele; Hartmut Engels; Ina Göhring; Olaf Riess; Eva Rossier; Evelin Schröck; Dagmar Wieczorek; Antje Wiesener; Eva Wohlleber; Alexander M Zink; Christiane Zweier; Markus Zweier; André Reis
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.
American journal of human genetics 2012;90(3):565-72.
2010: Sabine Endele; Georg Rosenberger; Kirsten Geider; Bernt Popp; Ceyhun Tamer; Irina Stefanova; Mathieu Milh; Fanny Kortüm; Angela Fritsch; Friederike K Pientka; Yorck Hellenbroich; Vera M Kalscheuer; Juergen Kohlhase; Ute Moog; Gudrun Rappold; Anita Rauch; Hans-Hilger Ropers; Sarah von Spiczak; Holger Tönnies; Nathalie Villeneuve; Laurent Villard; Bernhard Zabel; Martin Zenker; Bodo Laube; André Reis; Dagmar Wieczorek; Lionel Van Maldergem; Kerstin Kutsche
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
Nature genetics 2010;42(11):1021-6.
2009: Alejandro Leal; Kathrin Huehne; Finn Bauer; Heinrich Sticht; Philipp Berger; Ueli Suter; Bernal Morera; Gerardo Del Valle; James R Lupski; Arif B Ekici; Francesca Pasutto; Sabine Endele; Ramiro Barrantes; Corinna Berghoff; Martin Berghoff; Bernhard Neundörfer; Dieter Heuss; Thomas Dorn; Peter Young; Lisa Santolin; Thomas Uhlmann; Michael Meisterernst; Michael Werner Sereda; Michael Sereda; Ruth Martha Stassart; Klaus-Armin Nave; André Reis; Gerd Meyer zu Horste; Bernd Rautenstrauss
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.
Neurogenetics 2009;10(4):275-87.
2008: Kai Stefan Dimmer; Francesca Navoni; Alberto Casarin; Eva Trevisson; Sabine Endele; Andreas Winterpacht; Leonardo Salviati; LUCA SCORRANO
LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability.
Human molecular genetics 2008;17(2):201-14.
2007: Sabine Endele; Sabine Klein; Sabine Richter; Tina Molter; Kerstin Amann; Bernd Klanke; Ralph Witzgall; Randy L Johnson; Karl F Hilgers; Andreas Winterpacht
Renal phenotype in heterozygous Lmx1b knockout mice (Lmx1b+/-) after unilateral nephrectomy.
Transgenic research 2007;16(6):723-9.
2007: C C Bergner; F Steffen Krause; Vahudin Zugor; Torsten Rith; Karl M Schrott; Sabine Endele; Dirk G Engehausen
Polymorphisms of human estrogen receptor (ER) gene alpha and beta in prostate cancer PC-EW and PC-OR cell lines.
Anticancer research 2007;27(4A):2071-4.
2005: Gerrit Mohrmann; Jan G Hengstler; Thomas G Hofmann; Sabine Endele; Brendan Lee; Christiane Stelzer; Bernhard Zabel; Juergen Brieger; Dirk Hasenclever; Berno Tanner; Jens Sagemueller; Jalid Sehouli; Hans Will; Andreas Winterpacht
SPOC1, a novel PHD-finger protein: association with residual disease and survival in ovarian cancer.
International journal of cancer. Journal international du cancer 2005;116(4):547-54.
2005: Dirk G Engehausen; F Steffen Krause; Johann Fleischmann; Ziya Y Akcetin; Karl M Schrott; Sabine Endele
Polymorphisms of human androgen receptor (hAR) gene in prostate cancer cell lines PC-EW and PC-OR.
Anticancer research 2005;25(3A):1611-4.
2005: Dirk G Engehausen; Sabine Endele; Steffen F Krause; Torsten Rith; Karl M Schrott; Ziya Y Akcetin
Polymorphisms in the human progesterone receptor (PGR) gene of two human prostate adenocarcinoma cell lines.
Anticancer research 2005;25(3A):1607-9.
2004: Stephanie Schlickum; Abhay Moghekar; Jeremy C Simpson; Cordula Steglich; Richard J O'Brien; Andreas Winterpacht; Sabine Endele
LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein.
Genomics 2004;83(2):254-61.
2003: Alejandro Leal; Sabine Endele; Corinna Stengel; Kathrin Huehne; Joachim Loetterle; Ramiro Barrantes; Andreas Winterpacht; Bernd Rautenstrauss
A novel myosin heavy chain gene in human chromosome 19q13.3.
Gene 2003;312():165-71.
2002: A Kocks; Sabine Endele; R Heller; B Schröder; H-J Schäfer; C Städtler; M Makrigeorgi-Butera; Andreas Winterpacht
Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints.
Journal of medical genetics 2002;39(5):E23.
1999: Sabine Endele; M Fuhry; S J Pak; Bernhard Zabel; Andreas Winterpacht
LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients.
Genomics 1999;60(2):218-25.