Leena Ala-Kokko

Overview

Best Publications

• Mapping the Ligand-binding Sites and Disease-associated Mutations on the Most Abundant Protein in the Human, Type I Collagen

  Gloria A. Di Lullo;Shawn M. Sweeney;Jarmo Körkkö;Leena Ala-Kokko;Leena Ala-Kokko

  1186
  Citations

• An Allele of COL9A2 Associated with Intervertebral Disc Disease

  Susanna Annunen;Petteri Paassilta;Jaana Lohiniva;Merja Perälä

  475
  Citations

• Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

  Gwenaëlle Collod-Béroud;Saga Le Bourdelles;Lesley Ades;Lesley Ades;Leena Ala-Kokko;Leena Ala-Kokko

  399
  Citations

• Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.

  Leena Ala-Kokko;Clinton T. Baldwin;Roland W. Moskowitz;Darwin J. Prockop

  391
  Citations

• Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).

  Nilofer Nina Ahmad;Leena Ala-Kokko;Robert G. Knowlton;Sergio A. Jimenez

  383
  Citations

• Identification of a novel common genetic risk factor for lumbar disk disease.

  Petteri Paassilta;Jaana Lohiniva;Harald H. H. Göring;Harald H. H. Göring;Merja Perälä

  378
  Citations

• Candidate cell and matrix interaction domains on the collagen fibril, the predominant protein of vertebrates.

  Shawn M. Sweeney;Joseph P. Orgel;Andrzej Fertala;Jon D. McAuliffe

  339
  Citations

• Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: Comparison with denaturing gradient gel electrophoresis and nucleotide sequencing

  Jarmo Körkkö;Susanna Annunen;Tero Pihlajamaa;Darwin J. Prockop

  335
  Citations

• Mutations in Cartilage Oligomeric Matrix Protein Causing Pseudoachondroplasia and Multiple Epiphyseal Dysplasia Affect Binding of Calcium and Collagen I, II, and IX

  Jochen Thur;Krisztina Rosenberg;D. Patric Nitsche;Tero Pihlajamaa

  324
  Citations

• Genetic risk factors for lumbar disc disease.

  Leena Ala-Kokko

  313
  Citations

• Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

  Susanna Annunen;Jarmo Körkkö;Jarmo Körkkö;Malwina Czarny;Matthew L. Warman

  283
  Citations

• De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.

  Dianna M. Milewicz;John R. Østergaard;Leena M. Ala-Kokko;Nadia Khan

  277
  Citations

• First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q

  M Devoto;K Shimoya;K Shimoya;J Caminis;J Ott

  256
  Citations

• Heterozygous Mutations in the LDL Receptor‐Related Protein 5 (LRP5) Gene Are Associated With Primary Osteoporosis in Children

  Heini Hartikka;Outi Mäkitie;Outi Mäkitie;Minna Männikkö;Andrea S Doria

  253
  Citations

• Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations.

  Jarmo Körkkö;Jarmo Körkkö;Leena Ala-Kokko;Leena Ala-Kokko;Anne De Paepe;Lieve Nuytinck

  236
  Citations

• Interleukin 1 polymorphisms and intervertebral disc degeneration.

  Svetlana Solovieva;Sanna Kouhia;Päivi Leino-Arjas;Leena Ala-Kokko

  220
  Citations

• Structure of cDNA clones coding for the entire preproα1(III) chain of human type III procollagen: differences in protein structure from type I procollagen and conservation of codon preferences

  L Ala-Kokko;S Kontusaari;C T Baldwin;H Kuivaniemi

  216
  Citations

• The TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degeneration.

  Jeffrey J T Jim;Noora Noponen-Hietala;Kenneth M C Cheung;Jürg Ott

  212
  Citations

• A Mutation in COL9A1 Causes Multiple Epiphyseal Dysplasia: Further Evidence for Locus Heterogeneity

  Malwina Czarny-Ratajczak;Jaana Lohiniva;Piotr Rogala;Kazimierz Kozlowski

  211
  Citations

• Genetic variations in IL6 associate with intervertebral disc disease characterized by sciatica.

  Noora Noponen-Hietala;Iita Virtanen;Riitta Karttunen;Susanne Schwenke

  193
  Citations