What is he best known for?
The fields of study he is best known for:
Uwe Kornak mostly deals with Genetics, Mutation, Cell biology, Molecular biology and Internal medicine.
His studies deal with areas such as Golgi apparatus and Gerodermia osteodysplastica, Cutis laxa as well as Mutation.
His work in the fields of Cell biology, such as Chloride channel, overlaps with other areas such as CLCN7.
His Molecular biology study also includes fields such as
- Gene which connect with Cartilage and Ossification,
- Phenotype that connect with fields like RUNX2.
His work on Osteopetrosis and Osteoclast as part of general Internal medicine research is frequently linked to TCIRG1, bridging the gap between disciplines.
His research investigates the connection with Frameshift mutation and areas like Missense mutation which intersect with concerns in Allele, Osteogenesis imperfecta and Congenital disorder.
His most cited work include:
- Loss of the ClC-7 Chloride Channel Leads to Osteopetrosis in Mice and Man (803 citations)
- Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis (296 citations)
- Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. (287 citations)
What are the main themes of his work throughout his whole career to date?
His scientific interests lie mostly in Genetics, Pathology, Cutis laxa, Internal medicine and Cell biology.
His is doing research in Mutation, Missense mutation, Exome sequencing, Gene and Phenotype, both of which are found in Genetics.
His Pathology research includes elements of Osteoclast, Cartilage and Long bone.
His research integrates issues of De Barsy syndrome and Wrinkly skin syndrome in his study of Cutis laxa.
The study incorporates disciplines such as Endocrinology and Cardiology in addition to Internal medicine.
His biological study spans a wide range of topics, including Lysosomal storage disease and Biochemistry.
He most often published in these fields:
- Genetics (37.90%)
- Pathology (32.42%)
- Cutis laxa (28.31%)
What were the highlights of his more recent work (between 2018-2021)?
- Pathology (32.42%)
- Exome sequencing (20.55%)
- Gene (15.07%)
In recent papers he was focusing on the following fields of study:
Uwe Kornak spends much of his time researching Pathology, Exome sequencing, Gene, Cell biology and Osteoporosis.
His research in Pathology intersects with topics in Osteoclast and Cartilage.
His Genome, Phenotype, Frameshift mutation and Clone study, which is part of a larger body of work in Gene, is frequently linked to TSC1, bridging the gap between disciplines.
In the subject of general Cell biology, his work in Actin is often linked to Plakin, thereby combining diverse domains of study.
His Osteoporosis study necessitates a more in-depth grasp of Internal medicine.
His Internal medicine research is multidisciplinary, relying on both Missense mutation and Extracellular matrix.
Between 2018 and 2021, his most popular works were:
- GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation (20 citations)
- GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation (20 citations)
- Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency. (14 citations)
In his most recent research, the most cited papers focused on:
His main research concerns Exome sequencing, Pathology, Cell biology, Atrophy and Short stature.
His Exome sequencing study contributes to a more complete understanding of Genetics.
His work on Platyspondyly and Hepatosplenomegaly is typically connected to TCIRG1 and Patchy osteosclerosis as part of general Pathology study, connecting several disciplines of science.
His research in the fields of Actin overlaps with other disciplines such as Plakin.
His Atrophy research is multidisciplinary, incorporating elements of Differential diagnosis, Hypogammaglobulinemia, Early infancy and Cutis laxa.
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