Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL (English)
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In:
Nature Genetics
;
39
, 8
;
960-962
;
2007
-
ISSN:
- Article (Journal) / Electronic Resource
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Title:Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL
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Contributors:Sobacchi, Cristina ( author ) / Frattini, Annalisa ( author ) / Guerrini, Matteo M ( author ) / Abinun, Mario ( author ) / Pangrazio, Alessandra ( author ) / Susani, Lucia ( author ) / Bredius, Robbert ( author ) / Mancini, Grazia ( author ) / Cant, Andrew ( author ) / Bishop, Nick ( author )
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Published in:Nature Genetics ; 39, 8 ; 960-962
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Publisher:
- New search for: Nature Publishing Group
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Publication date:2007-08-01
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Size:3 pages
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ISSN:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
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Source:
Table of contents – Volume 39, Issue 8
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 931
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Compete, collaborate, compel| 2007
- 933
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Splinkerette PCR for more efficient characterization of gene trap eventsHorn, Carsten / Hansen, Jens / Schnütgen, Frank / Seisenberger, Claudia / Floss, Thomas / Irgang, Markus / De-Zolt, Silke / Wurst, Wolfgang / von Melchner, Harald / Noppinger, Patricia Ruiz et al. | 2007
- 935
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Target mimics modulate miRNAsChitwood, Daniel H / Timmermans, Marja C P et al. | 2007
- 936
-
Axons need glial peroxisomesAubourg, Patrick et al. | 2007
- 938
-
A step forward for restless legs syndromeMignot, Emmanuel et al. | 2007
- 941
-
Touching base| 2007
- 943
-
Research Highlights| 2007
- 945
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Evolution of chromosome organization driven by selection for reduced gene expression noiseBatada, Nizar N / Hurst, Laurence D et al. | 2007
- 951
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Common variants in WFS1 confer risk of type 2 diabetesSandhu, Manjinder S / Weedon, Michael N / Fawcett, Katherine A / Wasson, Jon / Debenham, Sally L / Daly, Allan / Lango, Hana / Frayling, Timothy M / Neumann, Rosalind J / Sherva, Richard et al. | 2007
- 954
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A common genetic risk factor for colorectal and prostate cancerHaiman, Christopher A / Le Marchand, Loïc / Yamamato, Jennifer / Stram, Daniel O / Sheng, Xin / Kolonel, Laurence N / Wu, Anna H / Reich, David / Henderson, Brian E et al. | 2007
- 957
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Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromesKantarci, Sibel / Al-Gazali, Lihadh / Hill, R Sean / Donnai, Dian / Black, Graeme C M / Bieth, Eric / Chassaing, Nicolas / Lacombe, Didier / Devriendt, Koen / Teebi, Ahmad et al. | 2007
- 960
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Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKLSobacchi, Cristina / Frattini, Annalisa / Guerrini, Matteo M / Abinun, Mario / Pangrazio, Alessandra / Susani, Lucia / Bredius, Robbert / Mancini, Grazia / Cant, Andrew / Bishop, Nick et al. | 2007
- 963
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Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowthDouglas, Jenny / Cilliers, Deirdre / Coleman, Kim / Tatton-Brown, Katrina / Barker, Karen / Bernhard, Brigitte / Burn, John / Huson, Susan / Josifova, Dragana / Lacombe, Didier et al. | 2007
- 966
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Bi-orientation of achiasmatic chromosomes in meiosis I oocytes contributes to aneuploidy in miceKouznetsova, Anna / Lister, Lisa / Nordenskjöld, Magnus / Herbert, Mary / Höög, Christer et al. | 2007
- 969
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Axonal loss and neuroinflammation caused by peroxisome-deficient oligodendrocytesKassmann, Celia M / Lappe-Siefke, Corinna / Baes, Myriam / Brügger, Britta / Mildner, Alexander / Werner, Hauke B / Natt, Oliver / Michaelis, Thomas / Prinz, Marco / Frahm, Jens et al. | 2007
- 977
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Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetesGudmundsson, Julius / Sulem, Patrick / Steinthorsdottir, Valgerdur / Bergthorsson, Jon T / Thorleifsson, Gudmar / Manolescu, Andrei / Rafnar, Thorunn / Gudbjartsson, Daniel / Agnarsson, Bjarni A / Baker, Adam et al. | 2007
- 984
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A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21Tomlinson, Ian / Webb, Emily / Carvajal-Carmona, Luis / Broderick, Peter / Kemp, Zoe / Spain, Sarah / Penegar, Steven / Chandler, Ian / Gorman, Maggie / Wood, Wendy et al. | 2007
- 989
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Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24Zanke, Brent W / Greenwood, Celia MT / Rangrej, Jagadish / Kustra, Rafal / Tenesa, Albert / Farrington, Susan M / Prendergast, James / Olschwang, Sylviane / Chiang, Theodore / Crowdy, Edgar et al. | 2007
- 995
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A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone diseaseBuch, Stephan / Schafmayer, Clemens / Völzke, Henry / Becker, Christian / Franke, Andre / von Eller-Eberstein, Huberta / Kluck, Christian / Bässmann, Ingelore / Brosch, Mario / Lammert, Frank et al. | 2007
- 1000
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Genome-wide association study of restless legs syndrome identifies common variants in three genomic regionsWinkelmann, Juliane / Schormair, Barbara / Lichtner, Peter / Ripke, Stephan / Xiong, Lan / Jalilzadeh, Shapour / Fulda, Stephany / Pütz, Benno / Eckstein, Gertrud / Hauk, Stephanie et al. | 2007
- 1007
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Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathyPandit, Bhaswati / Sarkozy, Anna / Pennacchio, Len A / Carta, Claudio / Oishi, Kimihiko / Martinelli, Simone / Pogna, Edgar A / Schackwitz, Wendy / Ustaszewska, Anna / Landstrom, Andrew et al. | 2007
- 1013
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Germline gain-of-function mutations in RAF1 cause Noonan syndromeRazzaque, M Abdur / Nishizawa, Tsutomu / Komoike, Yuta / Yagi, Hisato / Furutani, Michiko / Amo, Ryunosuke / Kamisago, Mitsuhiro / Momma, Kazuo / Katayama, Hiroshi / Nakagawa, Masao et al. | 2007
- 1018
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Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosisAttanasio, Massimo / Uhlenhaut, N Henriette / Sousa, Vitor H / O'Toole, John F / Otto, Edgar / Anlag, Katrin / Klugmann, Claudia / Treier, Anna-Corina / Helou, Juliana / Sayer, John A et al. | 2007
- 1025
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Genetic variation in Mon1a affects protein trafficking and modifies macrophage iron loading in miceWang, Fudi / Paradkar, Prasad N / Custodio, Angel O / McVey Ward, Diane / Fleming, Mark D / Campagna, Dean / Roberts, Kristina A / Boyartchuk, Victor / Dietrich, William F / Kaplan, Jerry et al. | 2007
- 1033
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Target mimicry provides a new mechanism for regulation of microRNA activityFranco-Zorrilla, José Manuel / Valli, Adrián / Todesco, Marco / Mateos, Isabel / Puga, María Isabel / Rubio-Somoza, Ignacio / Leyva, Antonio / Weigel, Detlef / García, Juan Antonio / Paz-Ares, Javier et al. | 2007