Scientific publications
Publications
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2009
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Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.
- David Parry
- Alan J. Mighell
- Walid El-Sayed
- Roger C. Shore
- Ismail K. Jalili
- Hélène Dollfus
- Agnes Bloch-Zupan
- Roman Carlos
- Ian M. Carr
- Louise M. Downey
- Katharine M. Blain
- David C. Mansfield
- Mehdi Shahrabi
- Mansour Heidari
- Parissa Aref
- Mohsen Abbasi
- Michel Michaelides
- Anthony T. Moore
- Jennifer Kirkham
- Chris F. Inglehearn
American Journal of Human Genetics ; Volume: 84 ; Page: 266-73
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Oral cobalamin (vitamin B12) treatment. An update
- E. Andrès
- N. Dali-Youcef
- T. Vogel
- K. Serraj
- J. Zimmer
International Journal of Laboratory Hematology ; Volume: 31 ; Page: 1-8
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HMGB4, a Novel Member of the HMGB Family, Is Preferentially Expressed in the Mouse Testis and Localizes to the Basal Pole of Elongating Spermatids.
- Raffaella Catena
- Emmanuelle Escoffier
- Cécile Caron
- Saadi Khochbin
- Igor Martianov
- Irwin Davidson
Biology of Reproduction ; Volume: 80 ; Page: 358-66
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A structural view of translation initiation in bacteria.
- Angelita Simonetti
- Stefano Marzi
- L. Jenner
- Alexander Myasnikov
- Pascale Romby
- Gulnara Yusupova
- Bruno Klaholz
- Marat Yusupov
Cellular and Molecular Life Sciences ; Volume: 66 ; Page: 423-36
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Induction of thymic stromal lymphopoietin expression in keratinocytes is necessary for generating an atopic dermatitis upon application of the active vitamin D3 analogue MC903 on mouse skin.
- Mei Li
- Pierre Hener
- Zhikun Zhang
- Krishna P. Ganti
- Daniel Metzger
- Pierre Chambon
Journal of Investigative Dermatology ; Volume: 129 ; Page: 498-502
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[START domain-containing proteins: a review of their role in lipid transport and exchange]
- Fabien Alpy
- François Legueux
- Laurent Bianchetti
- Catherine Tomasetto
Médecine/Sciences ; Volume: 25 ; Page: 181-91
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Frataxin deficiency causes upregulation of mitochondrial Lon and ClpP proteases and severe loss of mitochondrial Fe-S proteins.
- Blanche Guillon
- Anne-Laure Bulteau
- Marie Wattenhofer-Donzé
- Stéphane Schmucker
- Bertrand Friguet
- Hélène Puccio
- Jean-Claude Drapier
- Cécile Bouton
FEBS Journal ; Volume: 276 ; Page: 1036-47
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The histone deacetylase SIRT1 controls male fertility in mice through regulation of hypothalamic-pituitary gonadotropin signaling
- Ullas Kolthur-Seetharam
- Katja Teerds
- Dirk G. de Rooij
- Olivia Wendling
- Michael Mcburney
- Paolo Sassone-Corsi
- Irwin Davidson
Biology of Reproduction ; Volume: 80 ; Page: 384-391
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Les protéines à domaine START, des trafiquants intracellulaires de lipides [= START domain-containing proteins: a review of their role in lipid transport and exchange]
- Fabien Alpy
- François Legueux
- Laurent Bianchetti
- Catherine-Laure Tomasetto
Médecine/Sciences ; Volume: 25 ; Page: 181-191
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Epigenetic reprogramming in mammalian reproduction: contribution from histone variants.
- Angèle Santenard
- Maria-Elena Torres-Padilla
Epigenetics : official journal of the DNA Methylation Society. ; Volume: 4 ; Page: 80-4
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