Publications by authors named "Gerd Scherer"

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Double Proton Tautomerism via Intra- or Intermolecular Pathways? The Case of Tetramethyl Reductic Acid Studied by Dynamic NMR: Hydrogen Bond Association, Solvent and Kinetic H/D Isotope Effects.
Hans-Heinrich Limbach, Simone Baumgärtner, Roland Franke, Ferdinand Männle, Gerd Scherer

Molecules· July 2021

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Four Novel NR5A1 Mutations in 46,XY Gonadal Dysgenesis Patients Including Frameshift Mutations with Altered Subcellular SF-1 Localization.
Jan Rehkämper, Ann-Christin Tewes, Judit Horvath, Gerd Scherer, Peter Wieacker

Sex Dev· October 2018

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A mutation creating an upstream initiation codon in the 5' UTR causes acampomelic campomelic dysplasia.
Anna E von Bohlen, Johann Böhm, Ramona Pop, Diana S Johnson, John Tolmie, Gerd Scherer

Mol Genet Genomic Med· May 2017

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Sox9 and Sox8 protect the adult testis from male-to-female genetic reprogramming and complete degeneration.
Francisco J Barrionuevo, Alicia Hurtado, Gwang-Jin Kim, Francisca M Real, Mohammed Bakkali, Gerd Scherer

Elife· June 2016

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FGFR2 mutation in 46,XY sex reversal with craniosynostosis.
Stefan Bagheri-Fam, Makoto Ono, Li Li, Liang Zhao, Janelle Ryan, Gerd Scherer

Hum Mol Genet· December 2015

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Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.
Gwang-Jin Kim, Elisabeth Sock, Astrid Buchberger, Walter Just, Friederike Denzer, Gerd Scherer

J Med Genet· April 2015

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A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene.
Kadri Karaer, Zafer Yüksel, Esin Yalınbaş, Gerd Scherer

Turk Pediatri Ars· June 2014

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Acampomelic form of campomelic dysplasia with SOX9 missense mutation.
Hariharan Gopakumar, Andrea Superti-Furga, Sheila Unger, Gerd Scherer, P K Rajiv

Indian J Pediatr· January 2014

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Clinical Utility Gene Card for: campomelic dysplasia.
Gerd Scherer, Bernhard Zabel, Gen Nishimura

Eur J Hum Genet· July 2013

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Scx+/Sox9+ progenitors contribute to the establishment of the junction between cartilage and tendon/ligament.
Yuki Sugimoto, Aki Takimoto, Haruhiko Akiyama, Ralf Kist, Gerd Scherer

Development· June 2013

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Genes promoting and disturbing testis development.
Francisco J Barrionuevo, Miguel Burgos, Gerd Scherer, Rafael Jiménez

Histol Histopathol· November 2012

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Tyrosinemia Type III detected via neonatal screening: management and outcome.
Evelyne Heylen, Gerd Scherer, Marie-Françoise Vincent, Sandrine Marie, Judith Fischer

Mol Genet Metab· November 2012

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Sox9 and Sox8 are required for basal lamina integrity of testis cords and for suppression of FOXL2 during embryonic testis development in mice.
Ina Georg, Francisco Barrionuevo, Thorsten Wiech, Gerd Scherer

Biol Reprod· October 2012

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L-Sox5 and Sox6 proteins enhance chondrogenic miR-140 microRNA expression by strengthening dimeric Sox9 activity.
Satoshi Yamashita, Shigeru Miyaki, Yoshio Kato, Shigetoshi Yokoyama, Tempei Sato, Gerd Scherer

J Biol Chem· June 2012

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A large TAT deletion in a tyrosinaemia type II patient.
Maria Legarda, Katarzyna Wlodarczyk, Sergio Lage, Fernando Andrade, Gwang-Jin Kim, Gerd Scherer

Mol Genet Metab· November 2011

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Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis.
I Georg, S Bagheri-Fam, K C Knower, P Wieacker, Gerd Scherer

Sex Dev· May 2011

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Hydroureternephrosis due to loss of Sox9-regulated smooth muscle cell differentiation of the ureteric mesenchyme.
Rannar Airik, Mark-Oliver Trowe, Anna Foik, Henner F Farin, Marianne Petry, Gerd Scherer

Hum Mol Genet· December 2010

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Profiling spermatogenic failure in adult testes bearing Sox9-deficient Sertoli cells identifies genes involved in feminization, inflammation and stress.
Aurélie Lardenois, Frédéric Chalmel, Francisco Barrionuevo, Philippe Demougin, Gerd Scherer

Reprod Biol Endocrinol· December 2010

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Dicer is required for Sertoli cell function and survival.
Gwang-Jin Kim, Ina Georg, Harry Scherthan, Matthias Merkenschlager, Florian Guillou, Gerd Scherer

Int J Dev Biol· August 2010

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SOX E genes: SOX9 and SOX8 in mammalian testis development.
Francisco Barrionuevo, Gerd Scherer

Int J Biochem Cell Biol· March 2010

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The PGD2 pathway, independently of FGF9, amplifies SOX9 activity in Sertoli cells during male sexual differentiation.
Brigitte Moniot, Faustine Declosmenil, Francisco Barrionuevo, Gerd Scherer, Kosuke Aritake

Development· June 2009

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Diagnosis of true hermaphroditism in a fetus with acampomelic campomelic dysplasia.
Mélanie Beaulieu Bergeron, Emmanuelle Lemyre, Françoise Rypens, Gerd Scherer, Nicole Lemieux

Prenat Diagn· May 2009

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Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients.
Gerlind Franke, Birke Bausch, Michael M Hoffmann, Markus Cybulla, Christian Wilhelm, Gerd Scherer

Hum Mutat· May 2009

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Testis cord differentiation after the sex determination stage is independent of Sox9 but fails in the combined absence of Sox9 and Sox8.
Francisco Barrionuevo, Ina Georg, Harry Scherthan, Charlotte Lécureuil, Florian Guillou, Gerd Scherer

Dev Biol· March 2009

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