1 to 10 of 263 literature results

• Neurotoxic autoantibodies mediate congenital cortical impairment of offspring in maternal lupus.

  Systemic lupus erythematosus (SLE) is an autoimmune disease mediated by autoantibodies and preferentially affecting women of childbearing age. Because…

  Authors: Ji Y Lee, Patricio T Huerta, Jie Zhang, Czeslawa Kowal, Eva Bertini, Bruce T Volpe, Betty Diamond

  Source: Nature medicine. 2009 Jan

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• Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

  Phosphotidylinositol (PtdIns) signaling is tightly regulated both spatially and temporally by subcellularly localized PtdIns kinases and phosphatases …

  Authors: Stephanie L Bielas, Jennifer L Silhavy, Francesco Brancati, Marina V Kisseleva, Lihadh Al-Gazali, Laszlo Sztriha, Riad A Bayoumi, Maha S Zaki, Alice Abdel-Aleem, Rasim Ozgur Rosti,…

  Source: Nature genetics. 2009 Sep

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• Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

  Aicardi-Goutières syndrome is a mendelian mimic of congenital infection and also shows overlap with systemic lupus erythematosus at both a clinical an…

  Authors: Gillian I Rice, Jacquelyn Bond, Aruna Asipu, Rebecca L Brunette, Iain W Manfield, Ian M Carr, Jonathan C Fuller, Richard M Jackson, Teresa Lamb, Tracy A Briggs,…

  Source: Nature genetics. 2009 Jul

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• Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

  Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common and clinically distinct form of familial spastic…

  Authors: Giovanni Stevanin, Filippo M Santorelli, Hamid Azzedine, Paula Coutinho, Jacques Chomilier, Paola S Denora, Elodie Martin, Anne-Marie Ouvrard-Hernandez, Alessandra Tessa, Naïma Bouslam,…

  Source: Nature genetics. 2007 Mar

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• Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.

  Joubert syndrome-related disorders (JSRD) are a group of syndromes sharing the neuroradiological features of cerebellar vermis hypoplasia and a peculi…

  Authors: Enza Maria Valente, Jennifer L Silhavy, Francesco Brancati, Giuseppe Barrano, Suguna Rani Krishnaswami, Marco Castori, Madeline A Lancaster, Eugen Boltshauser, Loredana Boccone, Lihadh Al-Gazali,…

  Source: Nature genetics. 2006 Jun

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• PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.

  Neurodegenerative disorders with high brain iron include Parkinson disease, Alzheimer disease and several childhood genetic disorders categorized as n…

  Authors: Neil V Morgan, Shawn K Westaway, Jenny E V Morton, Allison Gregory, Paul Gissen, Scott Sonek, Hakan Cangul, Jason Coryell, Natalie Canham, Nardo Nardocci,…

  Source: Nature genetics. 2006 Jul

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• Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

  Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the clinical and immunological features of which parallel those of c…

  Authors: Yanick J Crow, Andrea Leitch, Bruce E Hayward, Anna Garner, Rekha Parmar, Elen Griffith, Manir Ali, Colin Semple, Jean Aicardi, Riyana Babul-Hirji,…

  Source: Nature genetics. 2006 Aug

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• Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders.

  OBJECTIVE: Methods: We describe biochemically and clinically relevant aspects of mitochondrial ATP synthase, the enzyme that supplies most ATP for the…

  Authors: Rosalba Carrozzo, Ilka Wittig, Filippo M Santorelli, Enrico Bertini, Sabine Hofmann, Ulrich Brandt, Hermann Schägger

  Source: Annals of neurology. 2006 Feb

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• MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

  The acronym COACH defines an autosomal recessive condition of Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma and Hepatic fi…

  Authors: Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Annalisa Mazzotta, Enrico Bertini, Eugen Boltshauser, Stefano D'Arrigo, Francesco Emma, Elisa Fazzi, Romina Gallizzi,…

  Source: Human mutation. 2009 Feb

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• Transcriptional behavior of DMD gene duplications in DMD/BMD males.

  DMD gene exons duplications account for up to 5-10 % of Duchenne (DMD) and up to 5-19% of Becker (BMD) muscular dystrophies; as for the more common de…

  Authors: F Gualandi, M Neri, M Bovolenta, E Martoni, P Rimessi, S Fini, P Spitali, M Fabris, M Pane, C Angelini,…

  Source: Human mutation. 2009 Feb

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