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  1. 1
    "NEDO human cDNA sequencing project focused on splicing variants."
    Wakamatsu A., Yamamoto J., Kimura K., Ishii S., Watanabe K., Sugiyama A., Murakawa K., Kaida T., Tsuchiya K., Fukuzumi Y., Kumagai A., Oishi Y., Yamamoto S., Ono Y., Komori Y., Yamazaki M., Kisu Y., Nishikawa T.
    Isogai T.
    Submitted (OCT-2007) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE.
    Category: Sequences.
    Tissue: Amygdala.
    Source: UniProtKB/TrEMBL (unreviewed).
  2. 2
    "Subcutaneous abdominal adipocyte size, a predictor of type 2 diabetes, is linked to chromosome 1q21--q23 and is associated with a common polymorphism in LMNA in Pima Indians."
    Weyer C., Wolford J.K., Hanson R.L., Foley J.E., Tataranni P.A., Bogardus C., Pratley R.E.
    Mol Genet Metab 72:231-238(2001) [PubMed] [Europe PMC] [Abstract]
    Category: Function, Pathology & Biotech.
    Annotation: Associated with METABOLIC: adipocyte size, large subcutaneous abdominal. [GAD:129712]. Associated with METABOLIC: diabetes, type 2. [GAD:129706]. Observational study of gene-disease association. (HuGE Navigator). [GeneRIF:4000].
    Source: GAD:129712, GeneRIF:4000, GAD:129706.

    This publication is mapped to 9 other entries.

  3. 3
    "A case of congenital generalized lipodystrophy: metabolic effects of four dietary regimens. Lack of association of CGL with polymorphism in the lamin A/C Gene."
    Kazlauskaite R., Santomauro A.T., Goldman J., Silver K., Snitker S., Beamer B.A., Yen C.J., Shuldiner A.R., Wajchenberg B.L.
    Clin Endocrinol (Oxf) 54:412-414(2001) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech.
    Annotation: Not Associated with OTHER: congenital generalized lipodystrophy.
    Source: GAD:129707.

    This publication is mapped to 9 other entries.

  4. 4
    "Analysis of the lamin A/C gene as a candidate for type II diabetes susceptibility in Pima Indians."
    Wolford J.K., Hanson R.L., Bogardus C., Prochazka M.
    Diabetologia 44:779-782(2001) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: Not Associated with METABOLIC: body mass; cholesterol; cholesterol, HDL; triglycerides; diabetes, type 2; insulin sensitivity; insulin secretion;. [GAD:129715]. Observational study of genotype prevalence and gene-disease association. (HuGE Navigator). [GeneRIF:4000]. Not Associated with METABOLIC: diabetes, type 2. [GAD:129711].
    Source: GAD:129715, GAD:129711, GeneRIF:4000.

    This publication is mapped to 9 other entries.

  5. 5
    "Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy."
    Oestlund C., Bonne G., Schwartz K., Worman H.J.
    J. Cell Sci. 114:4435-4445(2001) [PubMed] [Europe PMC] [Abstract]
    Category: Function, Subcellular Location, Interaction.
    Annotation: Some lamin A mutants causing disease can be aberrantly localized partially disrupt the endogenous lamina and alter emerin localization whereas others localize normally in transfected cells.
    Source: GeneRIF:4000.

    This publication is mapped to 8 other entries.

  6. 6
    "Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy."
    Raharjo W.H., Enarson P., Sullivan T., Stewart C.L., Burke B.
    J Cell Sci 114:4447-4457(2001) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: Certain dilated cardiomyopathy- and Emery-Dreyfuss muscular dystrophy-associated LMNA mutations result in misassembly of A-type lamins and give rise to a variety of nuclear structure abnormalities which may contribute to disease progression.
    Source: GeneRIF:4000.

    This publication is mapped to 9 other entries.

  7. 7
    "Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene."
    Vigouroux C., Auclair M., Dubosclard E., Pouchelet M., Capeau J., Courvalin J.C., Buendia B.
    J Cell Sci 114:4459-4468(2001) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: A population of cultured skin fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene present dysmorphic nuclei or a disorganization of the nuclear lamina or both.
    Source: GeneRIF:4000.

    This publication is mapped to 9 other entries.

  8. 8
    "Distinct functional domains in emerin bind lamin A and DNA-bridging protein BAF."
    Lee K.K., Haraguchi T., Lee R.S., Koujin T., Hiraoka Y., Wilson K.L.
    J Cell Sci 114:4567-4573(2001) [PubMed] [Europe PMC] [Abstract]
    Category: Interaction.
    Annotation: Lamin A-binding is mediated by the central region of emerin residues 70-178 outside the LEM-domain.
    Source: GeneRIF:4000.

    This publication is mapped to 14 other entries.

  9. 9
    "Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse."
    De Sandre-Giovannoli A., Chaouch M., Kozlov S., Vallat J.-M., Tazir M., Kassouri N., Szepetowski P., Hammadouche T., Vandenberghe A., Stewart C.L., Grid D., Levy N.
    Am. J. Hum. Genet. 70:726-736(2002) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: homozygous defects in LMNA encoding lamin A/C nuclear-envelope proteins cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
    Source: GeneRIF:4000.

    This publication is cited by 1 and mapped to 11 other entries.

  10. 10
    "Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease."
    Arbustini E., Pilotto A., Repetto A., Grasso M., Negri A., Diegoli M., Campana C., Scelsi L., Baldini E., Gavazzi A., Tavazzi L.
    J. Am. Coll. Cardiol. 39:981-990(2002) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: LMNA gene mutations account for 33% of the dilated cardiomyopathies with atrioventricular block all familial autosomal dominant.
    Source: GeneRIF:4000.

    This publication is mapped to 8 other entries.

  11. 11
    Category: Sequences.
    Annotation: genes known to be responsible for Emery-Dreifuss muscular dystrophy.
    Source: GeneRIF:4000.

    This publication is mapped to 11 other entries.

  12. 12
    "Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene."
    Garg A., Speckman R.A., Bowcock A.M.
    Am. J. Med. 112:549-555(2002) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: Novel missense mutations in two families with the Dunnigan variety of familial partial lipodystrophy cardiac conduction system defects and cardiomyopathy suggest a multisystem dystrophy syndrome due to LMNA mutations.
    Source: GeneRIF:4000.

    This publication is mapped to 8 other entries.

  13. 13
    "1H, 13C and 15N resonance assignments of the C-terminal domain of human lamin A/C."
    Krimm I., Couprie J., Ostlund C., Worman H.J., Zinn-Justin S.
    J Biomol NMR 22:371-372(2002) [PubMed] [Europe PMC] [Abstract]
    Category: Family & Domains.
    Annotation: 1H 13C and 15N resonance assignments of the C-terminal domain.
    Source: GeneRIF:4000.

    This publication is mapped to 9 other entries.

  14. 14
    "Identification of lamin A/C (LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B."
    Ki C.-S., Hong J.S., Jeong G.-Y., Ahn K.J., Choi K.-M., Kim D.-K., Kim J.-W.
    J. Hum. Genet. 47:225-228(2002) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: LMNA mutation is associated with autosomal dominant Emery-Dreifuss mucular dystrophy amd limb-girdle muscular dystrophy.
    Source: GeneRIF:4000.

    This publication is mapped to 8 other entries.

  15. 15
    "The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy."
    Krimm I., Ostlund C., Gilquin B., Couprie J., Hossenlopp P., Mornon J.-P., Bonne G., Courvalin J.-C., Worman H.J., Zinn-Justin S.
    Structure 10:811-823(2002) [PubMed] [Europe PMC] [Abstract]
    Category: Structure, Sequences.
    Annotation: solution structure of the human lamin A/C C-terminal globular domain which contains specific mutations causing four different heritable diseases.
    Source: GeneRIF:4000.

    This publication is mapped to 8 other entries.

  16. 16
    Category: Sequences.
    Annotation: mutation causes mandibuloacral dysplasia.
    Source: GeneRIF:4000.

    This publication is mapped to 8 other entries.

  17. 17
    "Molecular characterization of protein kinase C-alpha binding to lamin A."
    Martelli A.M., Bortul R., Tabellini G., Faenza I., Cappellini A., Bareggi R., Manzoli L., Cocco L.
    J Cell Biochem 86:320-330(2002) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: regions of PKC-alpha that are crucial for binding to lamin A and vice versa.
    Source: GeneRIF:4000.

    This publication is mapped to 9 other entries.

  18. 18
    "Absence of mutations in exon 8 of the gene in combination antiretroviral therapy-associated partial lipodystrophy."
    Domingo P., Baiget M., Arroyo J.A., Seco L., Sambeat M.A., Domenech M., Vazquez G.
    J Acquir Immune Defic Syndr 30:457-458(2002) [PubMed] [Europe PMC] [Abstract]
    Category: Function, Sequences.
    Annotation: Absence of mutations in exon 8 of the gene in combination antiretroviral therapy-associated partial lipodystrophy.
    Source: GeneRIF:4000.

    This publication is mapped to 9 other entries.

  19. 19
    "An LMNA variant is associated with dyslipidemia and insulin resistance in the Japanese."
    Murase Y., Yagi K., Katsuda Y., Asano A., Koizumi J., Mabuchi H.
    Metabolism 51:1017-1021(2002) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: Not Associated with METABOLIC: insulin resistance; dyslipidemia. [GAD:129716]. Observational study of gene-disease association. (HuGE Navigator). [GeneRIF:4000]. Associated with METABOLIC: dyslipidemia and insulin resistance. [GAD:129705].
    Source: GAD:129705, GAD:129716, GeneRIF:4000.

    This publication is mapped to 9 other entries.

  20. 20
    Category: Sequences.
    Annotation: Mutations in the lamin A/C gene found associated with lipodystrophy cardiac abnormalities and muscular dystrophy.
    Source: GeneRIF:4000.

    This publication is mapped to 8 other entries.

  21. 21
    "In vivo and in vitro interaction between human transcription factor MOK2 and nuclear lamin A/C."
    Dreuillet C., Tillit J., Kress M., Ernoult-Lange M.
    Nucleic Acids Res 30:4634-4642(2002) [PubMed] [Europe PMC] [Abstract]
    Category: Interaction.
    Annotation: In this study we identify a novel interaction between lamin A/C and hsMOK2 by using the yeast two-hybrid system.
    Source: GeneRIF:4000.

    This publication is mapped to 12 other entries.

  22. 22
    "The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene."
    Chaouch M., Allal Y., De Sandre-Giovannoli A., Vallat J.M., Amer-el-Khedoud A., Kassouri N., Chaouch A., Sindou P., Hammadouche T., Tazir M., Levy N., Grid D.
    Neuromuscul Disord 13:60-67(2003) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: The autosomal recessive axonal Charcot-Marie-Tooth type 2 due to mutation (c.892C>T-p.R298C) in a gene encoding Lamin A/C nuclear envelope proteins and the first gene in which a mutation leads to autosomal recessive Charcot-Marie-Tooth type 2.
    Source: GeneRIF:4000.

    This publication is mapped to 9 other entries.

  23. 23
    "Elevated serum C-reactive protein and free fatty acids among nondiabetic carriers of missense mutations in the gene encoding lamin A/C (LMNA) with partial lipodystrophy."
    Hegele R.A., Kraw M.E., Ban M.R., Miskie B.A., Huff M.W., Cao H.
    Arterioscler Thromb Vasc Biol 23:111-116(2003) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: LMNA missense mutations in nondiabetic carriers with Dunnigan-type familial partial lipodystrophy (FPLD) are associated with elevated levels of serum C-reactive protein and free fatty acid particularly in women.
    Source: GeneRIF:4000.

    This publication is mapped to 9 other entries.

  24. 24
    Category: Sequences.
    Annotation: Mutations in LMNA cause a severe and progressive dilated cardiomyopathy in a relevant proportion of patients.
    Source: GeneRIF:4000.

    This publication is mapped to 8 other entries.

  25. 25
    "Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype."
    Charniot J.-C., Pascal C., Bouchier C., Sebillon P., Salama J., Duboscq-Bidot L., Peuchmaurd M., Desnos M., Artigou J.-Y., Komajda M.
    Hum. Mutat. 21:473-481(2003) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: French family affected with a new phenotype composed of autosomal dominant severe dilated cardiomyopathy & a specific quadriceps muscle myopathy;identified missense mutation in the lamin A/C gene that cosegregated with the disease.
    Source: GeneRIF:4000.

    This publication is mapped to 8 other entries.

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