D-Index & Metrics Best Publications

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Genetics D-index 62 Citations 11,107 128 World Ranking 2194 National Ranking 12

Overview

What is she best known for?

The fields of study she is best known for:

  • Gene
  • Mutation
  • Genetics

Leena Pulkkinen mainly investigates Genetics, Mutation, Epidermolysis bullosa, Molecular biology and Junctional epidermolysis bullosa. Her work is connected to Compound heterozygosity, Gene, Gene mapping, Allele and Proband, as a part of Genetics. Her work focuses on many connections between Mutation and other disciplines, such as Basement membrane, that overlap with her field of interest in Splice site mutation.

Her research integrates issues of Hemidesmosome and Frameshift mutation in her study of Epidermolysis bullosa. The various areas that Leena Pulkkinen examines in her Molecular biology study include DNA, Gene mutation, Genetic enhancement, Nonsense mutation and Candidate gene. Leena Pulkkinen interconnects Exon skipping, Point mutation, Lamina lucida and Exon in the investigation of issues within Junctional epidermolysis bullosa.

Her most cited work include:

  • 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 (365 citations)
  • Plectin deficiency results in muscular dystrophy with epidermolysis bullosa (337 citations)
  • Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia (334 citations)

What are the main themes of her work throughout her whole career to date?

Leena Pulkkinen mainly focuses on Genetics, Epidermolysis bullosa, Mutation, Gene and Molecular biology. Exon, Nonsense mutation, Compound heterozygosity, Allele and Phenotype are the subjects of her Genetics studies. Her Epidermolysis bullosa study combines topics from a wide range of disciplines, such as Hemidesmosome, Missense mutation and Muscular dystrophy.

Her study looks at the relationship between Mutation and fields such as Junctional epidermolysis bullosa, as well as how they intersect with chemical problems. Her work on Heteroduplex, Candidate gene and genomic DNA as part of her general Gene study is frequently connected to Glycine, thereby bridging the divide between different branches of science. Her Molecular biology research incorporates themes from Junctional epidermolysis bullosa, Splice site mutation, Gene mutation and Frameshift mutation.

She most often published in these fields:

  • Genetics (56.59%)
  • Epidermolysis bullosa (43.41%)
  • Mutation (41.86%)

What were the highlights of her more recent work (between 2000-2005)?

  • Gene (40.31%)
  • Genetics (56.59%)
  • Molecular biology (35.66%)

In recent papers she was focusing on the following fields of study:

Her scientific interests lie mostly in Gene, Genetics, Molecular biology, Exon and Epidermolysis bullosa. Missense mutation, Mutation, Compound heterozygosity, Genodermatosis and Candidate gene are subfields of Genetics in which her conducts study. Her research investigates the connection between Mutation and topics such as Phenotype that intersect with problems in Blistering eruption, Genetic counseling and Genetic therapy.

Her research in Compound heterozygosity intersects with topics in ABCC6, Pseudoxanthoma elasticum, Pathology and Palmoplantar keratoderma. Leena Pulkkinen combines subjects such as genomic DNA, Stop codon and Junctional epidermolysis bullosa with her study of Exon. Leena Pulkkinen has included themes like Nonsense mutation, Hemidesmosome, Dystonin and Polymerase chain reaction in her Epidermolysis bullosa study.

Between 2000 and 2005, her most popular works were:

  • Targeted Ablation of the Abcc6 Gene Results in Ectopic Mineralization of Connective Tissues (157 citations)
  • Compound Heterozygosity for Non-Sense and Mis-Sense Mutations in Desmoplakin Underlies Skin Fragility/Woolly Hair Syndrome (118 citations)
  • Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes (117 citations)

In her most recent research, the most cited papers focused on:

  • Gene
  • Mutation
  • Genetics

Leena Pulkkinen spends much of her time researching Genetics, Gene, Exon, Epidermolysis bullosa and Pathology. Leena Pulkkinen is studying Genodermatosis, which is a component of Genetics. Her work on Intron, Sequence analysis and Stop codon as part of general Gene research is frequently linked to Pseudogene and Bacterial artificial chromosome, bridging the gap between disciplines.

Her Exon research is multidisciplinary, relying on both genomic DNA, Molecular biology and Junctional epidermolysis bullosa. Her studies deal with areas such as Mutation, Missense mutation and Genotype as well as Epidermolysis bullosa. Her studies in Pathology integrate themes in fields like ABCC6 and Compound heterozygosity.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

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.
Journal of Cell Biology (1997)

504 Citations

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

Katariina Kainulainen;Leena Pulkkinen;Aslak Savolainen;Ilkka Kaitila.
The New England Journal of Medicine (1990)

477 Citations

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

F.J.D. Smith;R.A.J. Eady;I.M. Leigh;J.R. McMillan.
Nature Genetics (1996)

443 Citations

Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia

Frédérique Vidal;Daniel Aberdam;Corinne Miquel;Angela M. Christiano.
Nature Genetics (1995)

436 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.
Nature Genetics (1994)

414 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.
Nature Genetics (1994)

395 Citations

Mutation analysis and molecular genetics of epidermolysis bullosa

Leena Pulkkinen;Jouni Uitto.
Matrix Biology (1999)

388 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.
Genes & Development (1996)

384 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.
Genomics (1994)

314 Citations

Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion

Marcel F Jonkman;Hans Scheffer;Rein Stulp;Hendri H Pas.
Cell (1997)

281 Citations

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