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Mitochondria, from cell death to proliferation.

Pierre Rustin

Published in Nature Genetics

Mitochondrial signaling cascades have been implicated in the activation of programmed cell death and, more recently, control of cell proliferation. A nuclear gene encoding a mitochondrial Krebs-cycle protein, fumarate hydratase, is now shown to act as a major tumor-suppressor gene.

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.

Bourdon, Alice Minai, Limor Serre, Valérie Jais, Jean-Philippe Sarzi, Emmanuelle Aubert, Sophie Chrétien, Dominique de Lonlay, Pascale Paquis-Flucklinger, Véronique Arakawa, Hirofumi ...

Published in Nature Genetics

Mitochondrial DNA (mtDNA) depletion syndrome (MDS; MIM 251880) is a prevalent cause of oxidative phosphorylation disorders characterized by a reduction in mtDNA copy number. The hitherto recognized disease mechanisms alter either mtDNA replication (POLG (ref. 1)) or the salvage pathway of mitochondrial deoxyribonucleosides 5'-triphosphates (dNTPs) ...

XACT, a long noncoding transcript coating the active X chromosome in human pluripotent cells.

Vallot, Céline Christophe Huret Lesecque, Yann Resch, Alissa Oudrhiri, Noufissa Bennaceur-Griscelli, Annelise Duret, Laurent Claire Rougeulle

Published in Nature Genetics

X-chromosome inactivation (XCI) in mammals relies on XIST, a long noncoding transcript that coats and silences the X chromosome in cis. Here we report the discovery of a long noncoding RNA, XACT, that is expressed from and coats the active X chromosome specifically in human pluripotent cells. In the absence of XIST, XACT is expressed from both X ch...

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness.

Lagresle-Peyrou, Chantal Six, Emmanuelle M Picard, Capucine Rieux-Laucat, Frédéric Michel, Vincent Ditadi, Andrea Demerens-de Chappedelaine, Corinne Morillon, Estelle Valensi, Françoise Simon-Stoos, Karen L ...

Published in Nature Genetics

Reticular dysgenesis is an autosomal recessive form of human severe combined immunodeficiency characterized by an early differentiation arrest in the myeloid lineage and impaired lymphoid maturation. In addition, affected newborns have bilateral sensorineural deafness. Here we identify biallelic mutations in AK2 (adenylate kinase 2) in seven indivi...

Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia....

De Keersmaecker, Kim Atak, Zeynep Kalender Li, Ning Vicente, Carmen Patchett, Stephanie Girardi, Tiziana Gianfelici, Valentina Geerdens, Ellen Clappier, Emmanuelle Porcu, Michaël ...

Published in Nature Genetics

T-cell acute lymphoblastic leukemia (T-ALL) is caused by the cooperation of multiple oncogenic lesions. We used exome sequencing on 67 T-ALLs to gain insight into the mutational spectrum in these leukemias. We detected protein-altering mutations in 508 genes, with an average of 8.2 mutations in pediatric and 21.0 mutations in adult T-ALL. Using str...

Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis.

Nicolas, Gaël Viatte, Lydie Lou, Dan-Qing Bennoun, Myriam Beaumont, Carole Kahn, Axel Andrews, Nancy C Sophie Vaulont

Published in Nature Genetics

Hereditary hemochromatosis is a prevalent genetic disorder of iron hyperabsorption leading to hyperferremia, tissue iron deposition and complications including cirrhosis, hepatocarcinoma, cardiomyopathy and diabetes. Most individuals affected with hereditary hemochromatosis are homozygous with respect to a missense mutation that disrupts the confor...

Identification of mutations in CUL7 in 3-M syndrome.

Huber, Céline Dias-Santagata, Dora Glaser, Anna O'Sullivan, James Brauner, Raja Wu, Kenneth Xu, Xinsong Pearce, Kerra Wang, Rong Uzielli, Maria Luisa Giovannucci ...

Published in Nature Genetics

Intrauterine growth retardation is caused by maternal, fetal or placental factors that result in impaired endovascular trophoblast invasion and reduced placental perfusion. Although various causes of intrauterine growth retardation have been identified, most cases remain unexplained. Studying 29 families with 3-M syndrome (OMIM 273750), an autosoma...

Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).

Geneviève, David Proulle, Valérie Isidor, Bertrand Bellais, Samuel Serre, Valérie Fatima Djouadi Picard, Capucine Vignon-Savoye, Capucine Bader-Meunier, Brigitte Blanche, Stéphane ...

Published in Nature Genetics

Studying consanguineous families with Ghosal hematodiaphyseal dysplasia syndrome (GHDD), a disorder of increased bone density, we identified mutations in TBXAS1, which encodes thromboxane synthase (TXAS). TXAS, an enzyme of the arachidonic acid cascade, produces thromboxane A(2) (TXA(2)). Platelets from subjects with GHDD showed a specific deficit ...

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.

Thauvin-Robinet, Christel Lee, Jaclyn S Lopez, Estelle Herranz-Pérez, Vicente Shida, Toshinobu Franco, Brunella Jego, Laurence Ye, Fan Pasquier, Laurent Loget, Philippe ...

Published in Nature Genetics

Centrioles are microtubule-based, barrel-shaped structures that initiate the assembly of centrosomes and cilia. How centriole length is precisely set remains elusive. The microcephaly protein CPAP (also known as MCPH6) promotes procentriole growth, whereas the oral-facial-digital (OFD) syndrome protein OFD1 represses centriole elongation. Here we u...

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

Van Houdt, Jeroen K J Nowakowska, Beata Anna Sousa, Sérgio B van Schaik, Barbera D C Seuntjens, Eve Avonce, Nelson Sifrim, Alejandro Abdul-Rahman, Omar A van den Boogaard, Marie-José H Bottani, Armand ...

Published in Nature Genetics

Nicolaides-Baraitser syndrome (NBS) is characterized by sparse hair, distinctive facial morphology, distal-limb anomalies and intellectual disability. We sequenced the exomes of ten individuals with NBS and identified heterozygous variants in SMARCA2 in eight of them. Extended molecular screening identified nonsynonymous SMARCA2 mutations in 36 of ...

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