Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism

[1]  A. Chapelle,et al.  The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8 , 1999, Nature Genetics.

[2]  A. Ballabio,et al.  Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle. , 1999, Human molecular genetics.

[3]  E. Seemanová,et al.  Mulibrey nanism and Wilms tumor. , 1999, American journal of medical genetics.

[4]  L. Peltonen,et al.  High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23. , 1999, Genome research.

[5]  M. Culbertson,et al.  RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer. , 1999, Trends in genetics : TIG.

[6]  T Varilo,et al.  Molecular genetics of the Finnish disease heritage. , 1999, Human molecular genetics.

[7]  K. Nakai,et al.  PSORT: a program for detecting sorting signals in proteins and predicting their subcellular localization. , 1999, Trends in biochemical sciences.

[8]  F. Slack,et al.  A novel repeat domain that is often associated with RING finger and B-box motifs. , 1998, Trends in biochemical sciences.

[9]  Sheng‐Chung Lee,et al.  Coactivator TIF1β Interacts with Transcription Factor C/EBPβ and Glucocorticoid Receptor To Induce α1-Acid Glycoprotein Gene Expression , 1998, Molecular and Cellular Biology.

[10]  P. Mains,et al.  Genetic and molecular characterization of the caenorhabditis elegans gene, mel-26, a postmeiotic negative regulator of mei-1, a meiotic-specific spindle component. , 1998, Genetics.

[11]  P. Chambon,et al.  TIF1alpha: a possible link between KRAB zinc finger proteins and nuclear receptors. , 1998, The Journal of steroid biochemistry and molecular biology.

[12]  M. Suyama,et al.  Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. , 1998, DNA research : an international journal for rapid publication of reports on genes and genomes.

[13]  Y. Muro,et al.  Identification of a novel nuclear speckle‐type protein, SPOP , 1997, FEBS letters.

[14]  Jacques Demaille,et al.  A candidate gene for familial Mediterranean fever , 1997, Nature Genetics.

[15]  Thomas L. Madden,et al.  Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. , 1997, Nucleic acids research.

[16]  A. de la Chapelle,et al.  Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis. , 1997, American journal of human genetics.

[17]  George J. Feldman,et al.  Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22 , 1997, Nature Genetics.

[18]  Anne M. Bowcock,et al.  Identification of a RING protein that can interact in vivo with the BRCA1 gene product , 1996, Nature Genetics.

[19]  Nazneen Rahman,et al.  Evidence for a familial Wilms' tumour gene (FWT1) on chromosome 17q12–q21 , 1996, Nature Genetics.

[20]  P. Freemont,et al.  Does this have a familiar RING? , 1996, Trends in biochemical sciences.

[21]  P. Freemont,et al.  In vivo and in vitro characterization of the B1 and B2 zinc-binding domains from the acute promyelocytic leukemia protooncoprotein PML. , 1996, Proceedings of the National Academy of Sciences of the United States of America.

[22]  P. Chambon,et al.  The N‐terminal part of TIF1, a putative mediator of the ligand‐dependent activation function (AF‐2) of nuclear receptors, is fused to B‐raf in the oncogenic protein T18. , 1995, The EMBO journal.

[23]  P. Lapunzina,et al.  Mulibrey nanism: three additional patients and a review of 39 patients. , 1995, American journal of medical genetics.

[24]  P. Freemont,et al.  Characterisation of a novel cysteine/histidine‐rich metal binding domain from Xenopus nuclear factor XNF7 , 1993, FEBS letters.

[25]  P. Freemont,et al.  A novel zinc finger coiled-coil domain in a family of nuclear proteins. , 1992, Trends in biochemical sciences.

[26]  Christine Chomienne,et al.  The PML-RARα fusion mRNA generated by the t(15;17) translocation in acute promyelocytic leukemia encodes a functionally altered RAR , 1991, Cell.

[27]  H. Hiai,et al.  Developmentally regulated expression of a human "finger"-containing gene encoded by the 5' half of the ret transforming gene , 1988, Molecular and cellular biology.

[28]  E. Heikkinen,et al.  A case of Mulibrey nanism with associated Wilms' tumor , 1980, Clinical genetics.

[29]  J. Perheentupa,et al.  Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction. , 1973, Lancet.