Leena Pulkkinen

Overview

Best Publications

• Targeted Disruption of the Pemphigus Vulgaris Antigen (Desmoglein 3) Gene in Mice Causes Loss of Keratinocyte Cell Adhesion with a Phenotype Similar to Pemphigus Vulgaris

  Peter J. Koch;M G. Mahoney;Hiroyasu Ishikawa;Leena Pulkkinen

  514
  Citations

• Location on chromosome 15 of the gene defect causing Marfan syndrome.

  Katariina Kainulainen;Leena Pulkkinen;Aslak Savolainen;Ilkka Kaitila

  483
  Citations

• Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

  F.J.D. Smith;R.A.J. Eady;I.M. Leigh;J.R. McMillan

  453
  Citations

• Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia

  Frédérique Vidal;Daniel Aberdam;Corinne Miquel;Angela M. Christiano

  443
  Citations

• Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa.

  Leena Pulkkinen;Angela M. Christiano;Tomi Airenne;Heli Haakana

  418
  Citations

• Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5)

  Aberdam D;Galliano Mf;Vailly J;Pulkkinen L

  401
  Citations

• Mutation analysis and molecular genetics of epidermolysis bullosa

  Leena Pulkkinen;Jouni Uitto

  397
  Citations

• Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.

  W. H. I. Mclean;L. Pulkkinen;F. J. D. Smith;E. L. Rugg

  392
  Citations

• A homozygous nonsense mutation in the β3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa

  Leena Pulkkinen;Angela M. Christiano;Donald Gerecke;D.Wolfe Wagman

  318
  Citations

• Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion

  Marcel F Jonkman;Hans Scheffer;Rein Stulp;Hendri H Pas

  296
  Citations

• Targeted Ablation of the Abcc6 Gene Results in Ectopic Mineralization of Connective Tissues

  John F. Klement;Yasushi Matsuzaki;Qiu Jie Jiang;Joseph Terlizzi

  212
  Citations

• Homozygous Deletion Mutations in the Plectin Gene (PLEC1) in Patients with Epidermolysis Bullosa Simplex Associated with Late-Onset Muscular Dystrophy

  Leena Pulkkinen;Frances J. D. Smith;Hiroshi Shimizu;Satoru Murata

  208
  Citations

• Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes

  Aoi Nakano;Sheau-Chiou Chao;Leena Pulkkinen;Dedee Murrell

  192
  Citations

• Molecular Basis of the Dystrophic and Junctional Forms of Epidermolysis Bullosa: Mutations in the Type VII Collagen and Kalinin (Laminin 5) Genes

  Jouni Uitto;Leena Pulkkinen;Angela M Christiano

  191
  Citations

• Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa

  John A. McGrath;John A. McGrath;Leena Pulkkinen;Angela M. Christiano;Irene M. Leigh

  185
  Citations

• Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment–genome interface?

  Jouni Uitto;Leena Pulkkinen;Franziska Ringpfeil

  173
  Citations

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

  G Tromp;H Kuivaniemi;S Raphael;L Ala-Kokko

  168
  Citations

• Homozygous α6 Integrin Mutation in Junctional Epidermolysis Bullosa with Congenital Duodenal Atresia

  L. Pulkkinen;V. E. Kimonis;Y. Xu;E. N. Spanou

  166
  Citations

• Compound Heterozygosity for Non-Sense and Mis-Sense Mutations in Desmoplakin Underlies Skin Fragility/Woolly Hair Syndrome

  Neil V. Whittock;Hong Wan;Hong Wan;Susan M. Morley;Maria C. Garzon

  165
  Citations

• Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa.

  B Gatalica;L Pulkkinen;K Li;K Kuokkanen

  156
  Citations