Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndromepp17 - 18 Behzad Moghadaszadeh, Nathalie Petit, Céline Jaillard, Martin Brockington, Susana Quijano Roy, Luciano Merlini, Norma Romero, Brigitte Estournet, Isabelle Desguerre, Denys Chaigne, Francesco Muntoni, Haluk Topaloglu
& Pascale Guicheney Published online: 20 August 2001|doi:10.1038/ng713 Abstract|Full text|PDF
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|Supplementary Information
CARD15 mutations in Blau syndromepp19 - 20 Corinne Miceli-Richard, Suzanne Lesage, Michel Rybojad, Anne-Marie Prieur, Sylvie Manouvrier-Hanu, Renate Häfner, Mathias Chamaillard, Habib Zouali, Gilles Thomas
& Jean-Pierre Hugot Published online: 27 August 2001|doi:10.1038/ng720 Abstract|Full text|PDF
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Human mtDNA and Y-chromosome variation is correlated with matrilocal versus patrilocal residencepp20 - 21 Hiroki Oota, Wannapa Settheetham-Ishida, Danai Tiwawech, Takafumi Ishida
& Mark Stoneking Published online: 20 August 2001|doi:10.1038/ng711 Abstract|Full text|PDF
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Does 77G in PTPRC modify autoimmune disorders linked to the major histocompatibility locus?pp22 - 23 Igor Vorechovsky, Jana Kralovicova, Elma Tchilian, Thomas Masterman, Zhiping Zhang, Berne Ferry, Siraj Misbah, Helen Chapel, David Webster, Dennis Hellgren, Maria Anvret, Jan Hillert, Lennart Hammarstrom
& Peter C. Beverley Published online: 27 August 2001|doi:10.1038/ng723 Abstract|Full text|PDF
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PTPRC (CD45) is not associated with the development of multiple sclerosis in U.S. patientspp23 - 24 Lisa F. Barcellos, Stacy Caillier, Leonard Dragone, Melissa Elder, Eric Vittinghoff, Patricia Bucher, Robin R. Lincoln, Margaret Pericak-Vance, Jonathan L. Haines, Arthur Weiss, Stephen L. Hauser
& Jorge R. Oksenberg Published online: 27 August 2001|doi:10.1038/ng722 Abstract|Full text|PDF
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Wildtype Kras2 can inhibit lung carcinogenesis in micepp25 - 33 Zhongqiu Zhang, Yian Wang, Haris G. Vikis, Leisa Johnson, Gongjie Liu, Jie Li, Marshall W. Anderson, Robert C. Sills, H.L. Hong, Theodora R. Devereux, Tyler Jacks, Kun-Liang Guan
& Ming You Published online: 27 August 2001|doi:10.1038/ng721 Abstract|Full text|PDF
(2,817K)
|Supplementary Information See also:News and Views by Pfeifer
Retinoic acid rescues inner ear defects in Hoxa1 deficient micepp34 - 39 Massimo Pasqualetti, Rüdiger Neun, Marc Davenne
& Filippo M. Rijli Published online: 06 August 2001|doi:10.1038/ng702 Abstract|Full text|PDF
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Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophypp40 - 47 Rajesh S. Savkur, Anne V. Philips
& Thomas A. Cooper Published online: 27 August 2001|doi:10.1038/ng704 Abstract|Full text|PDF
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A Y-encoded subunit of the translation initiation factor Eif2 is essential for mouse spermatogenesispp49 - 53 Sophie Mazeyrat, Noëmie Saut, Vladimir Grigoriev, Shantha K. Mahadevaiah, Obah A. Ojarikre, Áine Rattigan, Colin Bishop, Eva M. Eicher, Michael J. Mitchell
& Paul S. Burgoyne Published online: 20 August 2001|doi:10.1038/ng717 Abstract|Full text|PDF
(3,694K)
|Supplementary Information
Comparable system-level organization of Archaea and Eukaryotespp54 - 56 J. Podani, Z.N. Oltvai, H. Jeong, B. Tombor, A.-L. Barabási
& E. Szathmáry Published online: 13 August 2001|doi:10.1038/ng708 Abstract|Full text|PDF
(109K)
|Supplementary Information
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failurepp57 - 60 Pascale de Lonlay, Isabelle Valnot, Antoni Barrientos, Marina Gorbatyuk, Alexander Tzagoloff, Jan-Willem Taanman, Emmanuel Benayoun, Dominique Chrétien, Noman Kadhom, Anne Lombès, Hélène Ogier de Baulny, Patrick Niaudet, Arnold Munnich, Pierre Rustin
& Agnès Rötig Published online: 30 July 2001|doi:10.1038/ng706 Abstract|Full text|PDF
(1,097K)
|Supplementary Information
Mutant -spectrin 4 causes auditory and motor neuropathies in quivering micepp61 - 65 Nicholas J. Parkinson, Christine L. Olsson, Janice L. Hallows, Jennifer McKee-Johnson, Bart P. Keogh, Konrad Noben-Trauth, Sharon G. Kujawa
& Bruce L Tempel Published online: 20 August 2001|doi:10.1038/ng710 Abstract|Full text|PDF
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Mutations in the gene encoding -sarcoglycan cause myoclonus−dystonia syndromepp66 - 69 Alexander Zimprich, Monika Grabowski, Friedrich Asmus, Markus Naumann, Daniela Berg, Markus Bertram, Karl Scheidtmann, Peter Kern, Juliane Winkelmann, Bertram Müller-Myhsok, Leonhard Riedel, Matthias Bauer, Tanja Müller, Mirna Castro, Thomas Meitinger, Tim M. Strom
& Thomas Gasser Published online: 27 August 2001|doi:10.1038/ng709 Abstract|Full text|PDF
(530K)
|Supplementary Information
New views on RPE65 deficiency: the rod system is the source of vision in a mouse model of Leber congenital amaurosispp70 - 74 Mathias W. Seeliger, Christian Grimm, Fredrik Ståhlberg, Christoph Friedburg, Gesine Jaissle, Eberhart Zrenner, Hao Guo, Charlotte E. Remé, Peter Humphries, Franz Hofmann, Martin Biel, Robert N. Fariss, T. Michael Redmond
& Andreas Wenzel Published online: 20 August 2001|doi:10.1038/ng712 Abstract|Full text|PDF
(1,503K)
See also:News and Views by Saari
Mutations in the gene encoding immunoglobulin -binding protein 2 cause spinal muscular atrophy with respiratory distress type 1pp75 - 77 Katja Grohmann, Markus Schuelke, Alexander Diers, Katrin Hoffmann, Barbara Lucke, Coleen Adams, Enrico Bertini, Hajnalka Leonhardt-Horti, Francesco Muntoni, Robert Ouvrier, Arne Pfeufer, Rainer Rossi, Lionel Van Maldergem, Jo M. Wilmshurst, Thomas F. Wienker, Michael Sendtner, Sabine Rudnik-Schöneborn, Klaus Zerres
& Christoph Hübner Published online: 13 August 2001|doi:10.1038/ng703 Abstract|Full text|PDF
(1,228K)
|Supplementary Information
Disruption of an imprinted gene cluster by a targeted chromosomal translocation in micepp78 - 82 Michele A. Cleary, Catherine D. van Raamsdonk, John Levorse, Binhai Zheng, Allan Bradley
& Shirley M. Tilghman Published online: 20 August 2001|doi:10.1038/ng715 Abstract|Full text|PDF
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The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathypp83 - 87 Iris Eisenberg, Nili Avidan, Tamara Potikha, Hagit Hochner, Miriam Chen, Tsviya Olender, Mark Barash, Moshe Shemesh, Menachem Sadeh, Gil Grabov-Nardini, Inna Shmilevich, Adam Friedmann, George Karpati, Walter G. Bradley, Lisa Baumbach, Doron Lancet, Edna Ben Asher, Jacques S. Beckmann, Zohar Argov
& Stella Mitrani-Rosenbaum Published online: 27 August 2001|doi:10.1038/ng718 Abstract|Full text|PDF
(3,123K)
|Supplementary Information
Rescue of embryonic lethality in Mdm4-null mice by loss of Trp53 suggests a nonoverlapping pathway with MDM2 to regulate p53pp92 - 95 John Parant, Arturo Chavez-Reyes, Natalie A. Little, Wen Yan, Valerie Reinke, Aart G. Jochemsen
& Guillermina Lozano Published online: 20 August 2001|doi:10.1038/ng714 Abstract|Full text|PDF
(3,795K)
Paternal transmission of the very common class I INS VNTR alleles predisposes to childhood obesitypp96 - 99 Catherine Le Stunff, Danièle Fallin
& Pierre Bougnères Published online: 13 August 2001|doi:10.1038/ng707 Abstract|Full text|PDF
(108K)
Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromasp100 doi:10.1038/ng0901-100a Full text|PDF
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Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondriap100 doi:10.1038/ng0901-100b Full text|PDF
(38K)
G in PTPRC modify autoimmune disorders linked to the major histocompatibility locus?
-spectrin 4 causes auditory and motor neuropathies in quivering mice
-sarcoglycan cause myoclonus−dystonia syndrome
-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1
