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    1. Jakobs, PM; Hanson, EL; Crispell, KA; Toy, W; Keegan, H; Schilling, K; Icenogle, TB; Litt, M; Hershberger, RE
      Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease

      JOURNAL OF CARDIAC FAILURE
    2. Brown, CA; Lanning, RW; McKinney, KQ; Salvino, AR; Cherniske, E; Crowe, CA; Darras, BT; Gominak, S; Greenberg, CR; Grosmann, C; Heydemann, P; Mendell, JR; Pober, BR; Sasaki, T; Shapiro, F; Simpson, DA; Suchowersky, O; Spence, JE
      Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifussmuscular dystrophy

      AMERICAN JOURNAL OF MEDICAL GENETICS
    3. Strelkov, SV; Herrmann, H; Geisler, N; Lustig, A; Ivaninskii, S; Zimbelmann, R; Burkhard, P; Aebi, U
      Divide-and-conquer crystallographic approach towards an atomic structure of intermediate filaments

      JOURNAL OF MOLECULAR BIOLOGY
    4. Hatsell, SJ; Eady, RA; Wennerstrand, L; Dopping-Hepenstal, P; Leigh, IM; Munro, C; Kelsell, DP
      Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    5. Schmidt, HHJ; Genschel, J; Baier, P; Schmidt, M; Ockenga, J; Tietge, UJF; Propsting, M; Buttner, C; Manns, MP; Lochs, H; Brabant, G
      Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    6. Kammerer, RA; Jaravine, VA; Frank, S; Schulthess, T; Landwehr, R; Lustig, A; Garcia-Echeverria, C; Alexandrescu, AT; Engel, J; Steinmetz, MO
      An intrahelical salt bridge within the trigger site stabilizes the GCN4 leucine zipper

      JOURNAL OF BIOLOGICAL CHEMISTRY
    7. MacDonald, RI; Pozharski, EV
      Free energies of urea and of thermal unfolding show that two tandem repeats of spectrin are thermodynamically more stable than a single repeat

      BIOCHEMISTRY
    8. Keep, NH
      Structural comparison of actin binding in utrophin and dystrophin

      NEUROLOGICAL SCIENCES
    9. Liu, J; Ben-Shahar, TR; Riemer, D; Treinin, M; Spann, P; Weber, K; Fire, A; Gruenbaum, Y
      Essential roles for Caenorhabditis elegans lamin gene in nuclear organization, cell cycle progression, and spatial organization of nuclear pore complexes

      MOLECULAR BIOLOGY OF THE CELL
    10. Muchir, A; Bonne, G; van der Kool, AJ; van Meegen, M; Baas, F; Bolhuis, PA; de Visser, M; Schwartz, K
      Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

      HUMAN MOLECULAR GENETICS
    11. Carlsson, L; Li, ZL; Paulin, D; Price, MG; Breckler, J; Robson, RM; Wiche, G; Thornell, LE
      Differences in the distribution of synemin, paranemin, and plectin in skeletal muscles of wild-type and desmin knock-out mice

      HISTOCHEMISTRY AND CELL BIOLOGY
    12. Suga, Y; Arin, MJ; Scott, G; Goldsmith, LA; Magro, CM; Baden, LA; Baden, HP; Roop, DR
      Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens

      EXPERIMENTAL DERMATOLOGY
    13. Bonne, G; Mercuri, E; Muchir, A; Urtizberea, A; Becane, HM; Recan, D; Merlini, L; Wehnert, M; Boor, R; Reuner, U; Vorgerd, M; Wicklein, EM; Eymard, B; Duboc, D; Penisson-Besnier, I; Cuisset, JM; Ferrer, X; Desguerre, I; Lacombe, D; Bushby, K; Pollitt, C; Toniolo, D; Fardeau, M; Schwartz, K; Muntoni, F
      Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

      ANNALS OF NEUROLOGY
    14. Irvine, AD; Smith, FJD; Shum, KW; Williams, HC; McLean, WHI
      A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosaof Siemens

      CLINICAL AND EXPERIMENTAL DERMATOLOGY
    15. Cohn, RD; Campbell, KP
      Molecular basis of muscular dystrophies

      MUSCLE & NERVE
    16. Hut, PHL; van der Vlies, P; Jonkman, MF; Verlind, E; Shimizu, H; Buys, CHCM; Scheffer, H
      Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    17. Steinbock, FA; Nikolic, B; Coulombe, PA; Fuchs, E; Traub, P; Wiche, G
      Dose-dependent linkage, assembly inhibition and disassembly of vimentin and cytokeratin 5/14 filaments through plectin's intermediate filament-binding domain

      JOURNAL OF CELL SCIENCE
    18. Badorff, C; Berkely, N; Mehrotra, S; Talhouk, JW; Rhoads, RE; Knowlton, KU
      Enteroviral protease 2A directly cleaves dystrophin and is inhibited by a dystrophin-based substrate analogue

      JOURNAL OF BIOLOGICAL CHEMISTRY
    19. Fujii, T; Takagi, H; Arimoto, M; Ootani, H; Ueeda, T
      Bundle formation of smooth muscle desmin intermediate filaments by calponin and its binding site on the desmin molecule

      JOURNAL OF BIOCHEMISTRY
    20. Shemanko, CS; Horn, HM; Keohane, SG; Hepburn, N; Kerr, AIG; Atherton, DJ; Tidman, MJ; Lane, EB
      Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential

      BRITISH JOURNAL OF DERMATOLOGY
    21. Speckman, RA; Garg, A; Du, FH; Bennett, L; Veile, R; Arioglu, E; Taylor, SI; Lovett, M; Bowcock, AM
      Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C

      AMERICAN JOURNAL OF HUMAN GENETICS
    22. di Barletta, MR; Ricci, E; Galluzzi, G; Tonali, P; Mora, M; Morandi, L; Romorini, A; Voit, T; Orstavik, KH; Merlini, L; Trevisan, C; Biancalana, V; Housmanowa-Petrusewicz, I; Bione, S; Ricotti, R; Schwartz, K; Bonne, G; Toniolo, D
      Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy

      AMERICAN JOURNAL OF HUMAN GENETICS
    23. Pollanen, MS; Bergeron, C
      Modeling of a periodic instability in paired helical filaments reveals an axial repeat

      ACTA NEUROPATHOLOGICA
    24. Horev, L; Glaser, B; Ben-Amitai, D; Vardy, D; Zlotogorski, A
      Monilethrix: Mutational hotspot in the helix termination motif of the human hair basic keratin 6

      HUMAN HEREDITY
    25. Moraru, R; Cserhalmi-Friedman, PB; Grossman, ME; Schneiderman, P; Christiano, AM
      Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene

      CLINICAL AND EXPERIMENTAL DERMATOLOGY
    26. Vlcek, S; Just, H; Dechat, T; Foisner, R
      Functional diversity of LAP2 alpha and LAP2 beta in postmitotic chromosomeassociation is caused by an alpha-specific nuclear targeting domain

      EMBO JOURNAL
    27. Lecomte, MC; Nicolas, G; Dhermy, D; Pinder, JC; Gratzer, WB
      Properties of normal and mutant polypeptide fragments from the dimer self-association sites of human red cell spectrin

      EUROPEAN BIOPHYSICS JOURNAL WITH BIOPHYSICS LETTERS
    28. Goldberg, M; Harel, A; Brandeis, M; Rechsteiner, T; Richmond, TJ; Weiss, AM; Gruenbaum, Y
      The tail domain of lamin Dm(0) binds histones H2A and H2B

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    29. Muller, FB; Anton-Lamprecht, I; Kuster, W; Korge, BP
      A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    30. Arin, MJ; Longley, MA; Epstein, EH; Scott, G; Goldsmith, LA; Rothnagel, JA; Roop, DR
      A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    31. Ma, LL; Xu, JY; Coulombe, PA; Wirtz, D
      Keratin filament suspensions show unique micromechanical properties

      JOURNAL OF BIOLOGICAL CHEMISTRY
    32. Steinert, PM; Chou, YH; Prahlad, V; Parry, DAD; Marekov, LN; Wu, KC; Jang, SI; Goldman, RD
      A high molecular weight intermediate filament-associated protein in BHK-21cells is nestin, a type VI intermediate filament protein - Limited co-assembly in vitro to form heteropolymers with type III vimentin and type IV alpha-internexin

      JOURNAL OF BIOLOGICAL CHEMISTRY
    33. Basarab, T; Smith, FJD; Jolliffe, VML; McLean, WHI; Neill, S; Rustin, MHA; Eady, RAJ
      Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature

      BRITISH JOURNAL OF DERMATOLOGY
    34. GOLDBERG M; LU HH; STUURMAN N; ASHERYPADAN R; WEISS AM; YU J; BHATTACHARYYA D; FISHER PA; GRUENBAUM Y; WOLFNER MF
      INTERACTIONS AMONG DROSOPHILA NUCLEAR-ENVELOPE PROTEINS LAMIN, OTEFIN, AND YA

      Molecular and cellular biology
    35. LIU J; WOLFNER MF
      FUNCTIONAL DISSECTION OF YA, AN ESSENTIAL, DEVELOPMENTALLY-REGULATED NUCLEAR LAMINA PROTEIN IN DROSOPHILA-MELANOGASTER

      Molecular and cellular biology
    36. MERCIER M; WINTER H; LABREZE C; CHAPALAIN V; SURLEVEBAZEILLE JE; TAIEB A; ROGERS MA; SCHWEITZER J
      A VARIABLE MONILETHRIX PHENOTYPE ASSOCIATED WITH A NOVEL MUTATION, GLU402LYS, IN THE HELIX TERMINATION MOTIF OF THE TYPE-II HAIR KERATIN HHB1

      Journal of investigative dermatology
    37. Suga, Y; Duncan, KO; Heald, PW; Roop, DR
      A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    38. Mical, TI; Monteiro, MJ
      The role of sequences unique to nuclear intermediate filaments in the targeting and assembly of human lamin B: evidence for lack of interaction of lamin B with its putative receptor

      JOURNAL OF CELL SCIENCE
    39. YUASA K; MIYAGOE Y; YAMAMOTO K; NABESHIMA Y; DICKSON G; TAKEDA S
      EFFECTIVE RESTORATION OF DYSTROPHIN-ASSOCIATED PROTEINS IN-VIVO BY ADENOVIRUS-MEDIATED TRANSFER OF TRUNCATED DYSTROPHIN CDNAS

      FEBS letters
    40. HESS JF; CASSELMAN JT; KONG AP; FITZGERALD PG
      PRIMARY SEQUENCE, SECONDARY STRUCTURE, GENE STRUCTURE, AND ASSEMBLY PROPERTIES SUGGESTS THAT THE LENS-SPECIFIC CYTOSKELETAL PROTEIN FILENSIN REPRESENTS A NOVEL CLASS OF INTERMEDIATE FILAMENT PROTEIN

      Experimental Eye Research
    41. WINTER H; ROGERS MA; LANGBEIN L; STEVENS HP; LEIGH IM; LABREZE C; ROUL S; TAIEB A; KRIEG T; SCHWEIZER J
      MUTATIONS IN THE HAIR CORTEX KERATIN HHB6 CAUSE THE INHERITED HAIR DISEASE MONILETHRIX

      Nature genetics
    42. KAKINUMA M; FUNABARA D; NAKAYA M; HIRAYAMA Y; WATABE S; MAEDA K; OOI T
      THERMAL UNFOLDING OF THE COLD-ACCLIMATED TYPE OF CARP LIGHT-MEROMYOSIN EXPRESSED BY RECOMBINANT-DNA IN ESCHERICHIA-COLI

      Fisheries science
    43. FLOOD G; ROWE AJ; CRITCHLEY DR; GRATZER WB
      FURTHER ANALYSIS OF THE ROLE OF SPECTRIN REPEAT MOTIFS IN ALPHA-ACTININ DIMER FORMATION

      European biophysics journal
    44. COULOMBE PA
      TRANSGENIC MICE AS A MODEL FOR THE STUDY OF INHERITED SKIN BULLOUS DISEASES

      Annales de dermatologie et de venereologie
    45. SONSKA A; ENTLICHER G
      PHOSPHORYLATION OF 68 KDA NEUROFILAMENT PROTEINS HAS NO SIGNIFICANT EFFECT ON THEIR ASSEMBLY

      Acta Neurobiologiae Experimentalis
    46. LEAPMAN RD; GALLANT PE; REESE TS; ANDREWS SB
      PHOSPHORYLATION AND SUBUNIT ORGANIZATION OF AXONAL NEUROFILAMENTS DETERMINED BY SCANNING-TRANSMISSION ELECTRON-MICROSCOPY

      Proceedings of the National Academy of Sciences of the United Statesof America
    47. HU ZL; SMITH L; MARTINS S; BONIFAS JM; CHEN H; EPSTEIN EH
      PARTIAL DOMINANCE OF A KERATIN-14 MUTATION IN EPIDERMOLYSIS-BULLOSA SIMPLEX - INCREASED SEVERITY OF DISEASE IN A HOMOZYGOTE

      Journal of investigative dermatology
    48. STEPHENS K; EHRLICH P; WEAVER M; LE R; SPENCER A; SYBERT VP
      PRIMERS FOR EXON-SPECIFIC AMPLIFICATION OF THE KRT5 GENE - IDENTIFICATION OF NOVEL AND RECURRENT MUTATIONS IN EPIDERMOLYSIS-BULLOSA SIMPLEXPATIENTS

      Journal of investigative dermatology
    49. JONES DO; WATTS C; MILLS C; SHARPE G; MARKS R; BOWDEN PE
      A NEW KERATIN 2E MUTATION IN ICHTHYOSIS BULLOSA OF SIEMENS

      Journal of investigative dermatology
    50. KOOIJMAN M; BLOEMENDAL M; TRAUB P; VANGRONDELLE R; VANAMERONGEN H
      TRANSIENT ELECTRIC BIREFRINGENCE STUDY OF INTERMEDIATE FILAMENT FORMATION FROM VIMENTIN AND GLIAL FIBRILLARY ACIDIC PROTEIN

      The Journal of biological chemistry
    51. NISHIDA K; HONMA Y; DOTA A; KAWASAKI S; ADACHI W; NAKAMURA T; QUANTOCK AJ; HOSOTANI H; YAMAMOTO S; OKADA M; SHIMOMURA Y; KINOSHITA S
      ISOLATION AND CHROMOSOMAL LOCALIZATION OF A CORNEA-SPECIFIC HUMAN KERATIN-12 GENE AND DETECTION OF 4 MUTATIONS IN MEESMANN-CORNEAL-EPITHELIAL-DYSTROPHY

      American journal of human genetics
    52. STUURMAN N; SASSE B; FISHER PA
      INTERMEDIATE FILAMENT PROTEIN POLYMERIZATION - MOLECULAR ANALYSIS OF DROSOPHILA NUCLEAR LAMIN HEAD-TO-TAIL BINDING

      Journal of structural biology
    53. UTTAM J; HUTTON E; COULOMBE PA; ANTONLAMPRECHT I; YU QC; GEDDEDAHL T; FINE JD; FUCHS E
      THE GENETIC-BASIS OF EPIDERMOLYSIS-BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION

      Proceedings of the National Academy of Sciences of the United Statesof America
    54. GOULIELMOS G; REMINGTON S; SCHWESINGER F; GEORGATOS SD; GOUNARI F
      CONTRIBUTIONS OF THE STRUCTURAL DOMAINS OF FILENSIN IN POLYMER FORMATION AND FILAMENT DISTRIBUTION

      Journal of Cell Science
    55. PORTER RM; LEITGEB S; MELTON DW; SWENSSON O; EADY RAJ; MAGIN TM
      GENE TARGETING AT THE MOUSE CYTOKERATIN-10 LOCUS - SEVERE SKIN FRAGILITY AND CHANGES OF CYTOKERATIN EXPRESSION IN THE EPIDERMIS

      The Journal of cell biology
    56. WASEEM A; LANE EB; HARRISON D; WASEEM N
      A KERATIN ANTIBODY RECOGNIZING A HETEROTYPIC COMPLEX - EPITOPE MAPPING TO COMPLEMENTARY LOCATIONS ON BOTH COMPONENTS OF THE COMPLEX

      Experimental cell research
    57. HEIMBURG T; SCHUENEMANN J; WEBER K; GEISLER N
      SPECIFIC RECOGNITION OF COILED COILS BY INFRARED-SPECTROSCOPY - ANALYSIS OF THE 3 STRUCTURAL DOMAINS OF TYPE-III INTERMEDIATE FILAMENT PROTEINS

      Biochemistry
    58. LETAI A; FUCHS E
      THE IMPORTANCE OF INTRAMOLECULAR ION-PAIRING IN INTERMEDIATE FILAMENTS

      Proceedings of the National Academy of Sciences of the United Statesof America
    59. JOHANSEN KM; JOHANSEN J
      FILARIN, A NOVEL INVERTEBRATE INTERMEDIATE FILAMENT PROTEIN PRESENT IN AXONS AND PERIKARYA OF DEVELOPING AND MATURE LEECH NEURONS

      Journal of neurobiology
    60. BOVENSCHULTE M; RIEMER D; WEBER K
      THE SEQUENCE OF A CYTOPLASMIC INTERMEDIATE FILAMENT (IF) PROTEIN FROMTHE ANNELID LUMBRICUS-TERRESTRIS EMPHASIZES A DISTINCTIVE FEATURE OF PROTOSTOMIC IF PROTEINS

      FEBS letters
    61. CARTER JM; HUTCHESON AM; QUINLAN RA
      IN-VITRO STUDIES ON THE ASSEMBLY PROPERTIES OF THE LENS PROTEINS CP49, CP115 - COASSEMBLY WITH ALPHA-CRYSTALLIN BUT NOT WITH VIMENTIN

      Experimental Eye Research
    62. SONG YH; MANDELKOW E
      PARACRYSTALLINE STRUCTURE OF THE STALK DOMAIN OF THE MICROTUBULE MOTOR PROTEIN KINESIN

      Journal of structural biology
    63. CHAN YM; ANTONLAMPRECHT I; YU QC; JACKEL A; ZABEL B; ERNST JP; FUCHS E
      A HUMAN KERATIN-14 KNOCKOUT - THE ABSENCE OF K14 LEADS TO SEVERE EPIDERMOLYSIS-BULLOSA SIMPLEX AND A FUNCTION FOR AN INTERMEDIATE FILAMENT PROTEIN

      Genes & development
    64. MAKAROVA I; CARPENTER D; KHAN S; IP W
      CONSERVED REGION IN THE TAIL DOMAIN OF VIMENTIN IS INVOLVED IN ITS ASSEMBLY INTO INTERMEDIATE FILAMENTS

      Cell motility and the cytoskeleton
    65. STEINERT PM; NORTH ACT; PARRY DAD
      STRUCTURAL FEATURES OF KERATIN INTERMEDIATE FILAMENTS

      Journal of investigative dermatology
    66. FUCHS E; COULOMBE P; CHENG J; CHAN YM; HUTTON E; SYDER A; DEGENSTEIN L; YU QC; LETAI A; VASSAR R
      GENETIC BASES OF EPIDERMOLYSIS-BULLOSA SIMPLEX AND EPIDERMOLYTIC HYPERKERATOSIS

      Journal of investigative dermatology
    67. KREMER H; ZEEUWEN P; MCLEAN WHI; MARIMAN ECM; LANE EB; VANDEKERKHOF PCM; ROPERS HH; STEIJLEN PM
      ICHTHYOSIS BULLOSA OF SIEMENS IS CAUSED BY MUTATIONS IN THE KERATIN 2E GENE

      Journal of investigative dermatology
    68. HATZFELD M; BURBA M
      FUNCTION OF TYPE-I AND TYPE-II KERATIN HEAD DOMAINS - THEIR ROLE IN DIMER, TETRAMER AND FILAMENT FORMATION

      Journal of Cell Science
    69. MONTEIRO MJ; HICKS C; GU L; JANICKI S
      DETERMINANTS FOR INTRACELLULAR SORTING OF CYTOPLASMIC AND NUCLEAR INTERMEDIATE FILAMENTS

      The Journal of cell biology
    70. SJOBERG G; JIANG WQ; RINGERTZ NR; LENDAHL U; SEJERSEN T
      COLOCALIZATION OF NESTIN AND VIMENTIN DESMIN IN SKELETAL-MUSCLE CELLSDEMONSTRATED BY 3-DIMENSIONAL FLUORESCENCE DIGITAL IMAGING MICROSCOPY/

      Experimental cell research
    71. ANDREOLI JM; TREVOR KT
      FATE OF A HEADLESS VIMENTIN PROTEIN IN STABLE CELL-CULTURES - SOLUBLEAND CYTOSKELETAL FORMS

      Experimental cell research
    72. SHOEMAN RL; TRAUB P
      ASSEMBLY OF INTERMEDIATE FILAMENTS

      BioEssays
    73. GLASS CA; GLASS JR; TANIURA H; HASEL KW; BLEVITT JM; GERACE L
      THE ALPHA-HELICAL ROD DOMAIN OF HUMAN LAMIN-A AND LAMIN-C CONTAINS A CHROMATIN BINDING-SITE

      EMBO journal
    74. TOMAREV SI; ZINOVIEVA RD; PIATIGORSKY J
      PRIMARY STRUCTURE AND LENS-SPECIFIC EXPRESSION OF GENES FOR AN INTERMEDIATE FILAMENT PROTEIN AND A BETA-TUBULIN IN CEPHALOPODS

      Biochimica et biophysica acta


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Documento generato il 18/02/20 alle ore 05:23:13