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 and Molecular Biology D-index 51 Citations 13,248 85 World Ranking 3544 National Ranking 389

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Mutation
  • Genetics

Derek J. Blake spends much of his time researching Genetics, Duchenne muscular dystrophy, Dystrophin, Utrophin and Muscular dystrophy. Genetics and Charged multivesicular body protein 2B are commonly linked in his work. Derek J. Blake studied Duchenne muscular dystrophy and Cell biology that intersect with Acetylcholine receptor, Cell surface receptor and Membrane-associated guanylate kinase.

ITGA7 is closely connected to Neuromuscular junction in his research, which is encompassed under the umbrella topic of Utrophin. His Muscular dystrophy research includes themes of Dystroglycan and Fukutin-related protein. His study on Dystrophin-associated protein complex also encompasses disciplines like

  • Dystrobrevin which connect with Dysbindin,
  • Dystrophin-associated protein which connect with Sarcospan,
  • Syntrophin which is related to area like Molecular biology.

His most cited work include:

  • A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD (2859 citations)
  • Function and genetics of dystrophin and dystrophin-related proteins in muscle (915 citations)
  • Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. (501 citations)

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

His primary scientific interests are in Genetics, Dystrophin, Cell biology, Muscular dystrophy and Molecular biology. His Dystrophin research focuses on subjects like Neuroscience, which are linked to Dysbindin. The study incorporates disciplines such as Retina, Acetylcholine receptor and Skeletal muscle in addition to Cell biology.

His biological study spans a wide range of topics, including Dystroglycan and Fukutin-related protein. The concepts of his Molecular biology study are interwoven with issues in Coding region, Peptide sequence and Gene isoform. His research in Utrophin intersects with topics in Regulation of gene expression and Neuromuscular junction.

He most often published in these fields:

  • Genetics (40.14%)
  • Dystrophin (28.57%)
  • Cell biology (23.81%)

What were the highlights of his more recent work (between 2012-2020)?

  • Genetics (40.14%)
  • Gene (19.05%)
  • SGCE (11.56%)

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

His main research concerns Genetics, Gene, SGCE, Cell biology and Myoclonus. Much of his study explores Genetics relationship to Cardiac muscle. His work focuses on many connections between SGCE and other disciplines, such as Gene isoform, that overlap with his field of interest in Intron.

His research integrates issues of Dystrobrevin, Kidney, Gene duplication and Dystrophin-associated protein in his study of Cell biology. His Myoclonus study also includes

  • Dystonia and related ITGA7, Cohort and Muscular dystrophy,
  • Dystonic disorder and related Proband, Genetic heterogeneity, Mutation rate and Mutation. His Neuroscience study combines topics from a wide range of disciplines, such as Sarcoglycan, Dystrophin, Dystrophin-associated protein complex and Dysbindin.

Between 2012 and 2020, his most popular works were:

  • Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion. (183 citations)
  • C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits (174 citations)
  • The emerging roles of TCF4 in disease and development (99 citations)

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

  • Gene
  • Mutation
  • Genetics

His primary areas of investigation include Genetics, TCF4, Disease, Transcription factor and C9orf72. Epigenetics, Fukutin-related protein, Genetic enhancement, Muscular dystrophy and Mutant are the subjects of his Genetics studies. His Transcription factor research is multidisciplinary, relying on both Chromatin immunoprecipitation, Autism and CHRNA5.

His studies deal with areas such as C9orf72 Protein, Frontotemporal lobar degeneration and Amyotrophic lateral sclerosis as well as C9orf72. Derek J. Blake has researched C9orf72 Protein in several fields, including DNA Repeat Expansion, Southern blot, Knockout mouse and Neurology, Neuroscience. His research integrates issues of Gene knockdown, Gene expression profiling, Cell biology, Regulation of gene expression and Notch signaling pathway in his study of Molecular biology.

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

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

Alan E. Renton;Elisa Majounie;Adrian James Waite;Javier Simón-Sánchez;Javier Simón-Sánchez.
Neuron (2011)

3265 Citations

Function and genetics of dystrophin and dystrophin-related proteins in muscle

Derek J. Blake;Andrew Weir;Sarah E. Newey;Kay E. Davies.
Physical Review (2002)

1239 Citations

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

Martin Brockington;Derek J. Blake;Paola Prandini;Susan C. Brown.
American Journal of Human Genetics (2001)

603 Citations

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

Martin Brockington;Yeliz Yuva;Paola Prandini;Susan C. Brown.
Human Molecular Genetics (2001)

533 Citations

Dysbindin-1 is reduced in intrinsic, glutamatergic terminals of the hippocampal formation in schizophrenia

Konrad Talbot;Wess L. Eidem;Caroline L. Tinsley;Matthew A. Benson.
Journal of Clinical Investigation (2004)

504 Citations

PDZ Domains: Targeting signalling molecules to sub‐membranous sites

Christopher P. Ponting;Christopher Phillips;Kay E. Davies;Derek J. Blake.
BioEssays (1997)

479 Citations

Primary structure of dystrophin-related protein.

Jonathon M. Tinsley;Derek J. Blake;A. Roche;U. Fairbrother.
Nature (1992)

446 Citations

Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).

Wei Li;Qing Zhang;Naoki Oiso;Edward K Novak.
Nature Genetics (2003)

441 Citations

Dysbindin, a Novel Coiled-coil-containing Protein That Interacts with the Dystrobrevins in Muscle and Brain *

Matthew A. Benson;Sarah E. Newey;Enca Martin-Rendon;Richard Hawkes.
Journal of Biological Chemistry (2001)

368 Citations

The neurobiology of duchenne muscular dystrophy: learning lessons from muscle?

Derek J. Blake;Stephan Kröger.
Trends in Neurosciences (2000)

260 Citations

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