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A Gradient of Glycolytic Activity Coordinates FGF and Wnt Signaling during Elongation of the Body Axis in Amniote Embryos.
Oginuma M(1), Moncuquet P(2), Xiong F(3), Karoly E(4), Chal J(1), Guevorkian K(1), Pourquie O(5).
Dev Cell 27 février 2017
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A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family.
Okutman O(1,)(2,)(3), Muller J(4,)(5), Skory V(1), Garnier JM(6), Gaucherot A(7), Baert Y(8), Lamour V(9), Serdarogullari M(10), Gultomruk M(10), Ropke A(11), Kliesch S(12), Herbepin V(13), Aknin I(14), Benkhalifa M(15), Teletin M(1), Bakircioglu E(16), Goossens E(8), Charlet-Berguerand N(7), Bahceci M(10), Tuttelmann F(11), Viville S(17,)(18,)(19,)(20).
J Assist Reprod Genet 11 avril 2017
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A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT).
Giorgio E(1), Vaula G(2), Benna P(3,)(4), Lo Buono N(5,)(6), Eandi CM(7), Dino D(8), Mancini C(1), Cavalieri S(9), Di Gregorio E(9), Pozzi E(1), Ferrero M(1), Giordana MT(2,)(3), Depienne C(10,)(11), Brusco A(1,)(9).
J Neurol Neurosurg Psychiatry 4 mai 2017
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A novel recurrent LIS1 splice site mutation in classic lissencephaly.
Philbert M(1,)(2), Maillard C(1,)(2), Cavallin M(1,)(2), Goldenberg A(3), Masson C(4), Boddaert N(5,)(6), El Morjani A(1,)(7), Steffann J(1,)(7), Chelly J(8,)(9,)(10,)(11,)(12), Gerard X(1,)(13), Bahi-Buisson N(1,)(2,)(14).
Am J Med Genet A Feb 2017
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A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Coutelier M(1,)(2,)(3,)(4,)(5,)(6), Coarelli G(1,)(2,)(3,)(4,)(7), Monin ML(7), Konop J(1,)(2,)(3,)(4,)(6), Davoine CS(1,)(2,)(3,)(4), Tesson C(1,)(2,)(3,)(4,)(6), Valter R(1,)(2,)(3,)(4,)(6), Anheim M(8,)(9,)(10), Behin A(11), Castelnovo G(12), Charles P(7), David A(13), Ewenczyk C(7), Fradin M(14,)(15), Goizet C(16,)(17), Hannequin D(18), Labauge P(19), Riant F(20), Sarda P(21), Sznajer Y(22), Tison F(23), Ullmann U(24), Van Maldergem L(25,)(26), Mochel F(1,)(2,)(3,)(4,)(7,)(27), Brice A(1,)(2,)(3,)(4,)(7), Stevanin G(1,)(2,)(3,)(4,)(6,)(7), Durr A(1,)(2,)(3,)(4,)(7); SPATAX network.
Brain 21 avril 2017
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Allosteric Regulation in the Ligand Binding Domain of Retinoic Acid Receptorgamma.
Chebaro Y(1), Sirigu S(1), Amal I(1), Lutzing R(2), Stote RH(1), Rochette-Egly C(2), Rochel N(1), Dejaegere A(1).
PLoS One 26 janvier 2017
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Altered enhancer transcription underlies Huntington's disease striatal transcriptional signature.
Le Gras S(1), Keime C(1), Anthony A(2,)(3), Lotz C(2,)(3), De Longprez L(4,)(5), Brouillet E(4,)(5), Cassel JC(2,)(3), Boutillier AL(2,)(3), Merienne K(2,)(3).
Sci Rep 22 février 2017
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An in vivo strategy to counteract post-administration anticoagulant activity of azido-Warfarin.
Ursuegui S(1), Recher M(1), Krezel W(2,)(3,)(4,)(5,)(6), Wagner A(1).
Nat Commun 19 mai 2017
