What is she best known for?
The fields of study she is best known for:
Leena Ala-Kokko mainly focuses on Genetics, Pathology, Allele, Exon and Gene.
Leena Ala-Kokko combines topics linked to Osteochondrodysplasia with her work on Genetics.
Leena Ala-Kokko has included themes like Internal medicine, Case-control study and Intervertebral disc in her Allele study.
She studied Exon and Intervertebral disk that intersect with Haplotype, Allele frequency and Genotype.
Her work in the fields of Gene, such as Chromosome 15, overlaps with other areas such as Human genome, Identification and Genomic organization.
The concepts of her Mutation study are interwoven with issues in Proteoglycan binding, Collagen receptor, Ligand, Fibronectin and Fibrillogenesis.
Her most cited work include:
- Mapping the Ligand-binding Sites and Disease-associated Mutations on the Most Abundant Protein in the Human, Type I Collagen (651 citations)
- Mapping the Ligand-binding Sites and Disease-associated Mutations on the Most Abundant Protein in the Human, Type I Collagen (651 citations)
- An Allele of COL9A2 Associated with Intervertebral Disc Disease (314 citations)
What are the main themes of her work throughout her whole career to date?
Her primary areas of study are Genetics, Pathology, Gene, Internal medicine and Mutation.
Her research is interdisciplinary, bridging the disciplines of Osteochondrodysplasia and Genetics.
Her Pathology research integrates issues from Allele, Genotype, Malotilate, Degenerative disc disease and Intervertebral disc.
Gene and Molecular biology are frequently intertwined in her study.
Her Internal medicine study combines topics from a wide range of disciplines, such as Endocrinology, Sciatica, Physical therapy, Single-nucleotide polymorphism and Haplotype.
The Mutation study which covers Stickler syndrome that intersects with Nonsense mutation.
She most often published in these fields:
- Genetics (58.94%)
- Pathology (29.14%)
- Gene (35.10%)
What were the highlights of her more recent work (between 2008-2019)?
- Genetics (58.94%)
- Internal medicine (23.18%)
- Single-nucleotide polymorphism (11.92%)
In recent papers she was focusing on the following fields of study:
Her scientific interests lie mostly in Genetics, Internal medicine, Single-nucleotide polymorphism, IL1A and Pathology.
Her research on Genetics frequently links to adjacent areas such as Shprintzen–Goldberg syndrome.
Her Internal medicine research is multidisciplinary, incorporating elements of Endocrinology, Leg pain and Sciatica.
Her Pathology research is multidisciplinary, relying on both Aortic aneurysm, Aorta, Pulmonary hypertension and Peristalsis.
Her Missense mutation study deals with Heterozygote advantage intersecting with Mutation.
Leena Ala-Kokko focuses mostly in the field of Mutation, narrowing it down to matters related to Stickler syndrome and, in some cases, Bioinformatics.
Between 2008 and 2019, her most popular works were:
- De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. (155 citations)
- Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity (65 citations)
- A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome (62 citations)
In her most recent research, the most cited papers focused on:
Leena Ala-Kokko spends much of her time researching Genetics, Haplotype, Mutation, Genetic predisposition and Missense mutation.
Her research in Oculoskeletal dysplasia, Consanguinity, Mutation testing, Minor allele frequency and Bone remodeling are components of Genetics.
Her work deals with themes such as Population study, Lumbar, IL1A, Single-nucleotide polymorphism and Pediatrics, which intersect with Haplotype.
Her Mutation study combines topics in areas such as Osteochondrodysplasia, Dysplasia, Stickler syndrome, Short stature and Collagen Type IX.
Her studies deal with areas such as Body mass index, Stress fractures, Femoral Neck Fractures, Femoral neck and Calcitriol receptor as well as Genetic predisposition.
Missense mutation is a subfield of Gene that Leena Ala-Kokko studies.
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