L. Ala‐kokko

发表

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

D J Prockop, I. Kaitila, A. Latos-Bieleńska, 1999, American journal of human genetics.

Expression of a partially deleted gene of human type II procollagen (COL2A1) in transgenic mice produces a chondrodysplasia.

L. Ala‐Kokko, H. Helminen, D. Prockop, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Candidate Cell and Matrix Interaction Domains on the Collagen Fibril, the Predominant Protein of Vertebrates*

Shawn M. Sweeney, L. Ala‐Kokko, A. Fertala, 2008, Journal of Biological Chemistry.

A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype–phenotype correlations in type XI collagenopathies

K. Devriendt, G. Mortier, J. Hurst, 2007, American journal of medical genetics. Part A.

A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis.

K. Kivirikko, D. Prockop, J. Hyland, 1993, Genomics.

Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)

L. Ala‐Kokko, L. Haataja, K. Kivirikko, 1993, American journal of human genetics.

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

Shawn M. Sweeney, L. Ala‐Kokko, S. Sweeney, 2002, The Journal of Biological Chemistry.

Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.

H. Brunner, L. Ala‐Kokko, R. Pauli, 2000, American journal of human genetics.

Putative Susceptibility Locus on Chromosome 21q for Lumbar Disc Disease (LDD) in the Finnish Population

J. Ott, J. Niinimäki, L. Ala‐Kokko, 2007, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Rare variations in WNT3A and DKK1 may predispose carriers to primary osteoporosis.

O. Mäkitie, L. Ala‐Kokko, W. Cole, 2012, European journal of medical genetics.

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

D. Milewicz, L. Ala‐Kokko, Lawrence Buja, 2010, American journal of medical genetics. Part A.

Update of the UMD‐FBN1 mutation database and creation of an FBN1 polymorphism database

Gabor Matyas, Christophe Béroud, Claudine Junien, 2003, Human mutation.

Sequence and genomic organization of the human G-protein Golfα gene (GNAL) on chromosome 18p11, a susceptibility region for bipolar disorder and schizophrenia

J. Vuoristo, L. Ala‐Kokko, D. Prockop, 2000, Molecular Psychiatry.

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

O. Mäkitie, L. Ala‐Kokko, W. Cole, 2005, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Complete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variants.

J. Liu, L. Ala‐Kokko, M. Warman, 1999, The Journal of biological chemistry.

Genetic predisposition for femoral neck stress fractures in military conscripts

J. Ott, L. Ala‐Kokko, S. Solovieva, 2010, BMC Genetics.

Synthesis of recombinant human procollagen II in a stably transfected tumour cell line (HT1080).

L. Ala‐Kokko, A. Sieron, D. Prockop, 1994, The Biochemical journal.

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

J. Ott, M. Devoto, L. Ala‐Kokko, 1998, European Journal of Human Genetics.

Is the interleukin‐6 haplotype a prognostic factor for sciatica?

M. Haapea, L. Ala‐Kokko, J. Karppinen, 2008, European journal of pain.

Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: About one‐fifth are recurrent

L. Ala‐Kokko, H. Kuivaniemi, G. Tromp, 1997, Human mutation.

Daavittila GENETIC RISK FACTORS FOR LUMBAR INTERVERTEBRAL DISC DISEASE CHARACTERIZED BY SCIATICA

L. Ala‐Kokko, J. Karppinen, Oulu F Inland, 2007 .

Department of Clinical Chemistry University of Helsinki MOLECULAR GENETICS OF AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS

A. Palotie, L. Ala‐Kokko, A. Christiano, 2000 .

Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis

I. Kiviranta, L. Ala‐Kokko, P. Lehenkari, 2018, PloS one.

Characterization of human type II procollagen and collagen-specific antibodies and their application to the study of human type II collagen processing and ultrastructure.

S. Jimenez, G. R. Dodge, D. Prockop, 1997, Matrix biology : journal of the International Society for Matrix Biology.

Deletion of a large domain in recombinant human procollagen II does not alter the thermal stability of the triple helix.

L. Ala‐Kokko, A. Sieron, D. Prockop, 1993, The Journal of biological chemistry.

Expression of a human cartilage procollagen gene (COL2A1) in mouse 3T3 cells.

S. Jimenez, L. Ala‐Kokko, K. Kivirikko, 1991, The Journal of biological chemistry.

Tissue-specific Expression of the Gene for Type I Procollagen (COL1A1) in Transgenic Mice

B. Sokolov, D. Prockop, J. Khillan, 1995, The Journal of Biological Chemistry.

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

L. Ala‐Kokko, D. Heinegård, M. Paulsson, 2001, The Journal of Biological Chemistry.

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

J. Ott, L. Ala‐Kokko, J. Karppinen, 2005, Pain.

Common interleukin-6 promoter variants associate with the more severe forms of distal interphalangeal osteoarthritis

Minna Männikkö, Päivi Leino-Arjas, Hilkka Riihimäki, 2008, Arthritis research & therapy.

Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes.

D. Prockop, R. Bouvier, P. Freisinger, 1994, The Journal of biological chemistry.

Genetic susceptibility of intervertebral disc degeneration among young Finnish adults

You-Qiang Song, J. Niinimäki, O. Tervonen, 2011, BMC Medical Genetics.

Title Genetic susceptibility of intervertebral disc degeneration amongyoung Finnish adults

You-Qiang Song, J. Niinimäki, O. Tervonen, 2011 .

A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers–Danlos syndrome type VI

L. Ala‐Kokko, K. Kivirikko, J. Hyland, 1992, Nature Genetics.

Interleukin 1 Polymorphisms and Intervertebral Disc Degeneration

L. Ala‐Kokko, P. Leino-Arjas, S. Solovieva, 2004, Epidemiology.

An allele of COL9A2 associated with intervertebral disc disease.

J. Ott, O. Tervonen, L. Ala‐Kokko, 1999, Science.

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

W. Tasman, S. Jimenez, L. Ala‐Kokko, 1991, Proceedings of the National Academy of Sciences of the United States of America.

COL9A3: A third locus for multiple epiphyseal dysplasia.

L. Ala‐Kokko, M. le Merrer, M. Merrer, 1999, American journal of human genetics.

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

R. Moskowitz, L. Ala‐Kokko, C. Baldwin, 1990, Proceedings of the National Academy of Sciences of the United States of America.

The Collagen V Homotrimer [α1(V)]3 Production Is Unexpectedly Favored over the Heterotrimer [α1(V)]2α2(V) in Recombinant Expression Systems

Minna Männikkö, L. Ala‐Kokko, M. Männikkö, 2010, Journal of biomedicine & biotechnology.

Structure of cDNA clones coding for the entire prepro alpha 1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences.

L. Ala‐Kokko, C. Baldwin, H. Kuivaniemi, 1989, The Biochemical journal.

The TRP2 Allele of COL9A2 is an Age-Dependent Risk Factor for the Development and Severity of Intervertebral Disc Degeneration

P. Sham, J. Ott, You-Qiang Song, 2005, Spine.

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

J. Ott, I. Kaitila, L. Ala‐Kokko, 2001, JAMA.

Novel mutations in the small leucine‐rich repeat protein/proteoglycan (SLRP) genes in high myopia

T. Spector, L. Ala‐Kokko, C. Hammond, 2007, Human mutation.

Association Between Interleukin 1 Gene Cluster Polymorphisms and Bilateral Distal Interphalangeal Osteoarthritis

L. Ala‐Kokko, P. Leino-Arjas, S. Solovieva, 2009, The Journal of Rheumatology.

Distal Interphalangeal Osteoarthritis Association Between Interleukin 1 Gene Cluster Polymorphisms and Bilateral

L. Ala‐Kokko, P. Leino-Arjas, M. Männikkö, 2009 .

Characterization of Recombinant Human Type IX Collagen

R. Timpl, L. Ala‐Kokko, E. Vuorio, 1999, The Journal of Biological Chemistry.

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.

L. Ala‐Kokko, A. De Paepe, D. Prockop, 1998, American journal of human genetics.

The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis.

I. Kiviranta, L. Ala‐Kokko, H. Göring, 2005, Osteoarthritis and cartilage.

Missense and nonsense mutations in the alternatively‐spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome

L. Ala‐Kokko, M. Männikkö, M. Pierpont, 2008, Human mutation.

An inbred line of transgenic mice expressing an internally deleted gene for type II procollagen (COL2A1). Young mice have a variable phenotype of a chondrodysplasia and older mice have osteoarthritic changes in joints.

L. Ala‐Kokko, H. Helminen, M. Tammi, 1993, The Journal of clinical investigation.

Genetic Factors Are Associated With Modic Changes in Endplates of Lumbar Vertebral Bodies

A. Natri, J. Niinimäki, O. Tervonen, 2008, Spine.

Occupational and Genetic Risk Factors Associated With Intervertebral Disc Disease

J. Ott, A. Natri, O. Tervonen, 2007, Spine.

Structural and Functional Characterization of Recombinant Matrilin-3 A-domain and Implications for Human Genetic Bone Diseases*

L. Ala‐Kokko, T. Jowitt, D. Thornton, 2007, Journal of Biological Chemistry.

Altered Integration of Matrilin-3 into Cartilage Extracellular Matrix in the Absence of Collagen IX

L. Ala‐Kokko, M. Paulsson, S. Grässel, 2005, Molecular and Cellular Biology.

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: Description of 12 patients

O. Mäkitie, G. Mortier, L. Ala‐Kokko, 2004, American journal of medical genetics. Part A.

Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

O. Mäkitie, G. Mortier, L. Ala‐Kokko, 2004, Journal of Medical Genetics.

A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations

L. Ala‐Kokko, E. Boltshauser, E. Jakkula, 2003, Journal of medical genetics.

Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule.

L. Ala‐Kokko, D. Prockop, M. Perälä, 1998, Matrix biology : journal of the International Society for Matrix Biology.

Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype

L. Ala‐Kokko, D. Rimoin, B. Zabel, 2001, Pediatric Radiology.

Sp1 and Sp3 Transcription Factors Mediate Interleukin-1β Down-regulation of Human Type II Collagen Gene Expression in Articular Chondrocytes*

Chafik Ghayor, L. Ala‐Kokko, E. Renard, 2003, Journal of Biological Chemistry.

SPINAL STENOSIS AND INTERVERTEBRAL DISC DISEASE

J. Arokoski, L. Ala‐Kokko, L. Ala‐kokko, 2005 .

Wolf–Hirschhorn syndrome and ectrodactyly: New findings and a review of the literature

L. Ala‐Kokko, B. Levy, Naomi Yachelevich, 2010, American journal of medical genetics. Part A.

Collagen II containing a Cys substitution for arg-alpha1-519. Homotrimeric monomers containing the mutation do not assemble into fibrils but alter the self-assembly of the normal protein.

L. Ala‐Kokko, D. Prockop, A. Fertala, 1997, The Journal of biological chemistry.

Structural analysis of the regulatory elements of the type-II procollagen gene. Conservation of promoter and first intron sequences between human and mouse.

L. Peltonen, A. Syvänen, M. Vikkula, 1992, Biochemical Journal.

Early-onset osteoarthritis linked to the type II procollagen gene. Detailed clinical phenotype and further analyses of the gene.

L. Peltonen, J. Ott, A. Palotie, 1993, Arthritis and rheumatism.

Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16.

L. Ala‐Kokko, A. Christiano, H. Kuivaniemi, 1996, American journal of human genetics.

SP3 Represses the SP1-mediated Transactivation of the HumanCOL2A1 Gene in Primary and De-differentiated Chondrocytes*

L. Ala‐Kokko, G. Suske, P. Galéra, 2001, The Journal of Biological Chemistry.

Mutations in Human Procollagen Genes

R. Brent, L. Ala‐Kokko, D. Prockop, 1990, Annals of the New York Academy of Sciences.

Oto‐spondylo‐megaepiphyseal dysplasia (OSMED): Clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene

L. Ala‐Kokko, M. Männikkö, S. Temtamy, 2006, American journal of medical genetics. Part A.

Effect of long‐term PUVA treatment of psoriasis on the collagen and elastin gene expression and growth of skin fibroblasts in vitro

L. Ala‐Kokko, T. Reunala, J. Karvonen, 1990, The British journal of dermatology.

Association Between the Aggrecan Gene Variable Number of Tandem Repeats Polymorphism and Intervertebral Disc Degeneration

L. Ala‐Kokko, P. Leino-Arjas, S. Solovieva, 2007, Spine.

Radiologic phenotypes in lumbar MR imaging for a gene defect in the COL9A3 gene of type IX collagen.

O. Tervonen, L. Ala‐Kokko, H. Göring, 2003, Radiology.

Finer linkage mapping of a primary hip osteoarthritis susceptibility locus on chromosome 6

L. Ala‐Kokko, L. Southam, J. Loughlin, 2002, European Journal of Human Genetics.

Cloning and characterization of a third human lysyl hydroxylase isoform.

L. Ala‐Kokko, K. Kivirikko, T. Kosonen, 1998, Proceedings of the National Academy of Sciences of the United States of America.

Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity

O. Mäkitie, L. Ala‐Kokko, M. Warman, 2012, BMC Medical Genetics.

Association between sequence variations in genes encoding human zona pellucida glycoproteins and fertilization failure in IVF.

L. Ala‐Kokko, M. Männikkö, J. Tapanainen, 2005, Human reproduction.

A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome

L. Ala‐Kokko, M. Shapiro, M. Blair, 2011, American journal of medical genetics. Part A.

Down-regulation of Human Type II Collagen Gene Expression by Transforming Growth Factor-β1 (TGF-β1) in Articular Chondrocytes Involves SP3/SP1 Ratio*

L. Ala‐Kokko, P. Galéra, J. Pujol, 2002, The Journal of Biological Chemistry.

Regulation of human COL2A1 gene expression in chondrocytes. Identification of C-Krox-responsive elements and modulation by phenotype alteration.

L. Ala‐Kokko, M. Takigawa, P. Galéra, 2000, The Journal of biological chemistry.

Malotilate prevents accumulation of type III pN-collagen, type IV collagen, and laminin in carbon tetrachloride-induced pulmonary fibrosis in rats.

L. Ala‐Kokko, J. Risteli, R. Sormunen, 1989, The American review of respiratory disease.

Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta

L. Ala‐Kokko, P. Blank, J. Zimmerberg, 2016, PLoS genetics.

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

L. Ala‐Kokko, D. Prockop, T. Pihlajamaa, 1998, Proceedings of the National Academy of Sciences of the United States of America.

The Collagenopathies: Review of Clinical Phenotypes and Molecular Correlations

L. Ala‐Kokko, R. Jobling, R. Mendoza-Londono, 2013, Current Rheumatology Reports.

Genetic risk factors of disc degeneration among 12-14-year-old Danish children: a population study.

N. Wedderkopp, L. Ala‐Kokko, J. Karppinen, 2010, International journal of molecular epidemiology and genetics.

Magnetic Resonance Imaging Findings in Relation to the COL9A2 Tryptophan Allele Among Patients With Sciatica

O. Tervonen, L. Ala‐Kokko, P. Nieminen, 2002, Spine.

Gender difference in genetic association between IL1A variant and early lumbar disc degeneration: a three-year follow-up.

N. Wedderkopp, L. Ala‐Kokko, J. Karppinen, 2012, International journal of molecular epidemiology and genetics.

Age dependent association of the COL9A2 Trp2 allele with intervertebral disc degeneration, annular tears and end-plate herniations

J. Ott, K. Luk, J. Karppinen, 2003 .

Phenotypic and population differences in the association between CILP and lumbar disc disease

P. Sham, You-Qiang Song, K. Luk, 2007, Journal of Medical Genetics.

Genetic risk factors for lumbar disc disease

L. Ala‐Kokko, L. Ala‐kokko, 2002, Annals of medicine.

Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with ehlers‐danlos type IV

F. Glorieux, L. Ala‐Kokko, H. Kuivaniemi, 1995, Human mutation.

Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients

I. Kaitila, L. Ala‐Kokko, R. Grenman, 2004, Human mutation.

A new syndromic craniosynostosis with involvement of the spine, long bones, pelvis, and digits: molecular genetic and array analysis

L. Ala‐Kokko, B. Levy, A. Shanske, 2012, Clinical dysmorphology.

A Novel Autosomal Recessive Non-Syndromic Deafness Locus, DFNB66, Maps to Chromosome 6p21.2-22.3 in a Large Tunisian Consanguineous Family

L. Ala‐Kokko, M. Männikkö, M. Ben Amor, 2006, Human Heredity.

Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1

M. Lathrop, C. Petit, D. Weil, 2003, European Journal of Human Genetics.

Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations.

L. Ala‐Kokko, J. Körkkö, W. Hagler, 2002, American journal of ophthalmology.

Gene expression of type I, III and IV collagens in hepatic fibrosis induced by dimethylnitrosamine in the rat.

L. Ala‐Kokko, E. Savolainen, K. Kivirikko, 1987, The Biochemical journal.

GENETIC DEFECTS OF COLLAGEN XI

L. Ala‐Kokko, M. Somer, M. Melkoniemi, 2005 .

Type II collagen mutations in rare and common cartilage diseases.

L. Ala‐Kokko, M. Vikkula, M. Metsäranta, 1994, Annals of medicine.

COL9A3 Gene Polymorphism and Obesity in Intervertebral Disc Degeneration of the Lumbar Spine: Evidence of Gene-Environment Interaction

L. Ala‐Kokko, P. Leino-Arjas, S. Solovieva, 2002, Spine.

Aggrecan core protein of a certain length is protective against hand osteoarthritis.

L. Ala‐Kokko, P. Leino-Arjas, S. Solovieva, 2006, Osteoarthritis and cartilage.

Down-regulation of human type II collagen gene expression by transforming growth factor-beta 1 (TGF-beta 1) in articular chondrocytes involves SP3/SP1 ratio.

P. Galéra, J. Pujol, C. Ghayor, 2002, Journal of Biological Chemistry.

A single base mutation in the type II procollagen gene (COL2A1) that converts glycine α1‐247 to serine in a family with late‐onset spondyloepiphyseal dysplasia

L. Ala‐Kokko, B. Sokolov, D. Prockop, 1994, Human mutation.

Collagen gene expression in keloids: analysis of collagen metabolism and type I, III, IV, and V procollagen mRNAs in keloid tissue and keloid fibroblast cultures.

L. Ala‐Kokko, E. Savolainen, A. Rintala, 1987, The Journal of investigative dermatology.

Original Article Gender difference in genetic association between IL1A variant and early lumbar disc degeneration: a three-year follow-up

N. Wedderkopp, L. Ala‐Kokko, J. Karppinen, 2012 .

Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients

I. Kaitila, S. Pynnönen, J. Hyland, 2004 .

Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.

L. Ala‐Kokko, D. Krakow, D. Prockop, 2000, American journal of medical genetics.

A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.

T. Spector, A. Latos-Bieleńska, L. Ala‐Kokko, 2001, American journal of human genetics.

Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2

L. Ala‐Kokko, E. Faqeih, J. Hecht, 2012, American journal of medical genetics. Part A.

Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.

Michael F. Wangler, L. Ala‐Kokko, M. Wangler, 2010, American journal of human genetics.

A stop codon mutation in COL11A2 induces exon skipping and leads to non‐ocular Stickler syndrome

L. Ala‐Kokko, J. Pappas, V. Jansen, 2004, American journal of medical genetics. Part A.

Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia

J. Kere, L. Ala‐Kokko, M. Warman, 2003, European Journal of Human Genetics.

Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).

L. Ala‐Kokko, A. Winterpacht, D. Prockop, 1998, American journal of medical genetics.

Complete Structure of the Human COL11A2 Gene: The Exon Sizes and other Features Indicate the Gene Has Not Evolved with Genes for Other Fibriller Collagens

L. Ala‐Kokko, D. Prockop, T. Pihlajamaa, 1996, Annals of the New York Academy of Sciences.

Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships.

L. Ala‐Kokko, J. Bonaventure, D. Prockop, 1995, The Biochemical journal.

Preventive effect of malotilate on dimethylnitrosamine-induced liver fibrosis in the rat.

L. Ala‐Kokko, F. Stenbäck, L. Ryhänen, 1989, The Journal of laboratory and clinical medicine.

Characterization of Recombinant Amino-terminal NC4 Domain of Human Collagen IX

Leena Valmu, L. Ala‐Kokko, A. Puustinen, 2004, Journal of Biological Chemistry.

Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ß gene polymorphisms

L. Ala‐Kokko, P. Leino-Arjas, S. Solovieva, 2006, European Spine Journal.

Sequence variations in the collagen IX and XI genes are associated with degenerative lumbar spinal stenosis

J. Ott, L. Ala‐Kokko, J. Karppinen, 2003, Annals of the rheumatic diseases.

Can mutated genes cause common osteoarthritis?

L. Ala‐Kokko, D. Prockop, D. Mclain, 1997, British journal of rheumatology.

The mouse col11a2 gene. Some transcripts from the adjacent rxr-beta gene extend into the col11a2 gene.

L. Ala‐Kokko, D. Prockop, P. Vandenberg, 1996, Matrix biology : journal of the International Society for Matrix Biology.

Completion of the intron-exon structure of the gene for human type II procollagen (COL2A1): variations in the nucleotide sequences of the alleles from three chromosomes.

L. Ala‐Kokko, D. Prockop, L. Ala‐kokko, 1990, Genomics.

A light microscopic and biochemical study of carbon tetrachloride‐induced pulmonary fibrosis in rats: the preventive effect of malotilate

L. Ala‐Kokko, L. Ryhänen, P. Pääkkö, 1987, European journal of clinical investigation.

Germline mosacism in Shprintzen–Goldberg syndrome

L. Ala‐Kokko, B. Levy, A. Shanske, 2012, American journal of medical genetics. Part A.

Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?

K. Hirschhorn, L. Ala‐Kokko, P. Warburton, 2012, Genetics in Medicine.

Morphological, immunohistochemical and ultrastructural changes in dimethylnitrosamine [correction of dimenthylnitrosamine] induced liver injury. Effect of malotilate.

F. Stenbäck, L. Ryhänen, L. Ala‐kokko, 1989, Histology and histopathology.

The Fibril-associated Collagen IX Provides a Novel Mechanism for Cell Adhesion to Cartilaginous Matrix*

L. Ala‐Kokko, J. Heino, A. Säämänen, 2004, Journal of Biological Chemistry.

Immunogenicity of recombinant type IX collagen in murine collagen-induced arthritis.

L. Ala‐Kokko, A. Kang, M. Bodo, 2002, Arthritis and rheumatism.

European Cells and Materials

You-Qiang Song, P. Sham, K. Luk, 2016 .

Efficient procedure for preparing cosmid libraries from microgram quantities of genomic DNA fragments size fractionated by gel electrophoresis.

L. Ala‐Kokko, D. Prockop, L. Ala‐kokko, 1990, Matrix.

Secretion of lysyl oxidase by cultured human skin fibroblasts and effects of monensin, nigericin, tunicamycin and colchicine.

L. Ala‐Kokko, H. Kuivaniemi, K. I. Kivirikko, 1986, Biochimica et biophysica acta.

C18orf2, a novel, highly conserved intronless gene within intron 5 of the GNAL gene on chromosome 18p11

J. Vuoristo, L. Ala‐Kokko, W. Berrettini, 2001, Cytogenetic and Genome Research.

Identification of COL2A1 gene mutations in patients with chondrodysplasias and familial osteoarthritis.

I. Kaitila, M. Vikkula, B. Sokolov, 1995, Arthritis and rheumatism.

Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia.

L. Ala‐Kokko, O. Vierimaa, U. Seppänen, 2000, American journal of medical genetics.

Targeted re-sequencing of linkage region on 2q21 identifies a novel functional variant for hip and knee osteoarthritis.

J. Ott, I. Kiviranta, L. Ala‐Kokko, 2016, Osteoarthritis and cartilage.

The Human COL11A2 Gene Structure Indicates that the Gene Has Not Evolved with the Genes for the Major Fibrillar Collagens (*)

L. Ala‐Kokko, D. Prockop, T. Pihlajamaa, 1995, The Journal of Biological Chemistry.

Conservation of the sizes of 53 introns and over 100 intronic sequences for the binding of common transcription factors in the human and mouse genes for type II procollagen (COL2A1).

E. Vuorio, K. Kivirikko, D. Prockop, 1995, Biochemical Journal.

Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes.

L. Ala‐Kokko, H. Kuivaniemi, G. Tromp, 2001, Matrix biology : journal of the International Society for Matrix Biology.

Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions

L. Peltonen, I. Kaitila, L. Ala‐Kokko, 2002, Journal of medical genetics.

Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations

O. Mäkitie, L. Ala‐Kokko, W. Cole, 2005, European Journal of Human Genetics.

Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction‐amplified genomic DNA

L. Ala‐Kokko, C. Baldwin, I. Hopkinson, 1992, Human mutation.

Absence of TGFBR2 mutations in patients with spontaneous spinal CSF leaks and intracranial hypotension

L. Ala‐Kokko, W. Schievink, O. Gordon, 2008, The Journal of Headache and Pain.

Biochemical and morphological characterization of carbon tetrachloride-induced lung fibrosis in rats

V. Ferrans, L. Ala‐Kokko, S. Anttila, 2009, Archives of Toxicology.

Origin of extracellular matrix synthesis during coronary repair.

L. Ala‐Kokko, A. Zalewski, Y. Shi, 1997, Circulation.

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

D. Milewicz, Lawrence Buja, L. Adès, 2010, American journal of medical genetics. Part A.

Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions

L. Peltonen, I. Kaitila, J. Körkkö, 2002, Journal of medical genetics.

Scleredema and paraproteinemia. Enhanced collagen production and elevated type I procollagen messenger RNA level in fibroblasts grown from cultures from the fibrotic skin of a patient.

L. Peltonen, L. Ala‐Kokko, J. Uitto, 1987, Archives of dermatology.

Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity

O. Mäkitie, M. Warman, W. Cole, 2012, BMC Medical Genetics.

Phylogenetic network of the mtDNA haplogroup U in Northern Finland based on sequence analysis of the complete coding region by conformation-sensitive gel electrophoresis.

L. Ala‐Kokko, S. Finnilä, K. Majamaa, 2000, American journal of human genetics.

Serum antibodies against intact human collagen IX are elevated at onset of rheumatoid arthritis but are not related to development of erosions.

M. Hakala, M. Kauppi, S. Hörkkö, 2008, The Journal of rheumatology.

Human Golf gene polymorphisms and vulnerability to bipolar disorder

J. Vuoristo, L. Ala‐Kokko, W. Berrettini, 1998, Psychiatric genetics.

The effect of malotilate on type III and type IV collagen, laminin and fibronectin metabolism in dimethylnitrosamine-induced liver fibrosis in the rat.

L. Ala‐Kokko, E. Savolainen, F. Stenback, 1996, Journal of hepatology.

Trimerization of collagen IX α-chains does not require the presence of the COL1 and NC1 domains

L. Ala‐Kokko, D. Hulmes, J. Ylostalo, 2008 .

Trimerization of collagen IX alpha-chains does not require the presence of the COL1 and NC1 domains.

L. Ala‐Kokko, D. Hulmes, W. Beckett, 2008, The Biochemical journal.

A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy

L. Ala‐Kokko, K. Lehti, H. Kröger, 2019, Molecular genetics & genomic medicine.

Common interleukin-6 promoter variants associate with the more severe forms of distal interphalangeal osteoarthritis

P. Leino-Arjas, S. Solovieva, M. Männikkö, 2008, Arthritis research & therapy.

Serum concentrations of the N-terminal propeptide of type III procollagen and two type IV collagen fragments and gene expression of the respective collagen types in liver in rats with dimethylnitrosamine-induced hepatic fibrosis.

L. Ala‐Kokko, E. Savolainen, K. Kivirikko, 1988, The Biochemical journal.

Analysis of an ascidian integrin provides new insight into early evolution of collagen recognition

L. Ala‐Kokko, J. Heino, R. Farndale, 2007, FEBS letters.

Genetic Linkage ofFamilial Granulomatous Inflammatory Arthritis, SkinRash, andUveitis toChromosome 16

A. Christiano, H. Kuivaniemi, G. Tromp, 1996 .