List of works - John David Brook

A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot.

scientific article published on 13 April 2012

A polymorphic DNA clone which maps to 19p13.2----19q12 (D19S27).

scientific article published on August 1988

A transcript map of a 10-Mb region of chromosome 19: a source of genes for human disorders, including candidates for genes involved in asthma, heart defects, and eye development

scientific article published on 01 February 2000

Acetylation of TBX5 by KAT2B and KAT2A regulates heart and limb development.

scientific article

Assignment of human ferritin genes to chromosomes 11 and 19q13.3----19qter

scientific article

Body composition and clinical outcome measures in patients with myotonic dystrophy type 1.

scientific article published on 16 November 2016

CDK12 inhibition reduces abnormalities in cells from patients with myotonic dystrophy and in a mouse model

scientific article published on 01 April 2020

Characterization of a YAC and cosmid contig containing markers tightly linked to the myotonic dystrophy locus on chromosome 19 ⬇️

scientific article published on July 1, 1992

Chromosomal assignment of c-MEL, a human transforming oncogene, to chromosome 19 (p13.2-q13.2)

scientific article published on 01 November 1986

Clinical and molecular aspects of the myotonic dystrophies: a review.

scientific article

Confirmation and refinement of the localisation of the c-MEL locus on chromosome 19 by physical and genetic mapping

scientific article

Correction: The miR-30 MicroRNA Family Targets smoothened to Regulate Hedgehog Signalling in Zebrafish Early Muscle Development

scientific article published on 6 November 2013

Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles

scientific article published on 01 September 2007

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

scientific article published in August 2016

Expanded CUG repeats Dysregulate RNA splicing by altering the stoichiometry of the muscleblind 1 complex.

scientific article published on 7 September 2011

Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts.

scientific article published on 23 August 2006

Further mapping of markers around the centromere of human chromosome 19

scientific article published on 01 December 1987

HDAC4 and 5 repression of TBX5 is relieved by protein kinase D1

scientific article published on 29 November 2019

High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines

scientific article

Human glandular kallikrein genes: Genetic and physical mapping of the KLK1 locus using a highly polymorphic microsatellite PCR marker ⬇️

scientific article published on September 1, 1991

Identification, mapping, and phylogenomic analysis of four new human members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19

scientific article

Linkage relationships of the insulin receptor gene with the complement component 3, LDL receptor, apolipoprotein C2 and myotonic dystrophy loci on chromosome 19

scientific article published on 01 November 1986

Localisation of genetic markers and orientation of the linkage group on chromosome 19

scientific article published on 01 January 1984

Loss of Heterozygosity in Bilateral Breast Cancer

scientific article published on 01 December 2000

Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot

scientific article

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

scientific article

Physical interaction between TBX5 and MEF2C is required for early heart development.

scientific article

Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy.

scientific article published on 12 April 2018

Radiation-reduced hybrids for the myotonic dystrophy locus ⬇️

scientific article published on June 1, 1992

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

scientific article published in July 2014

Rare variants in NR2F2 cause congenital heart defects in humans

scientific article published on April 2014

Recent advances in congenital heart disease genomics.

scientific article published on 12 June 2017

Regional localisations and linkage relationships of seven RFLPs and myotonic dystrophy on chromosome 19

scientific article published on 01 November 1986

Retreat of the triplet repeat?

scientific article published on 01 April 1993

Six transcripts map within 200 kilobases of the myotonic dystrophy expanded repeat.

scientific article

Small Molecules Which Improve Pathogenesis of Myotonic Dystrophy Type 1.

scientific article published on 18 May 2018

Testing for the chemical induction of aneuploidy in the male mouse

scientific article published on 01 April 1986

Testing of 3 chemical compounds for aneuploidy induction in the female mouse

The Impact of Mechanical Forces in Heart Morphogenesis ⬇️

scientific article published on February 1, 2012

The amyloid precursor-like protein (APLP) gene maps to the long arm of human chromosome 19

scientific article

The apolipoprotein CII gene: subchromosomal localisation and linkage to the myotonic dystrophy locus

scientific article published on 01 January 1985

The effect of 4CMB on germ cells of the mouse

scientific article published on 01 January 1982

The miR-30 microRNA family targets smoothened to regulate hedgehog signalling in zebrafish early muscle development.

scientific article

The physical map of chromosome arm 19q: some new assignments, confirmations and re-assessments

scientific article published on 01 May 1991

Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects

scientific article

Unstable DNA sequence in myotonic dystrophy

scientific article published on 01 May 1992

Zebrafish deficient for Muscleblind-like 2 exhibit features of myotonic dystrophy.

scientific article

α-cardiac actin mutations produce atrial septal defects

October 2007 scholarly article in Human Molecular Genetics

List of works by John David Brook

A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot.

A polymorphic DNA clone which maps to 19p13.2----19q12 (D19S27).

A transcript map of a 10-Mb region of chromosome 19: a source of genes for human disorders, including candidates for genes involved in asthma, heart defects, and eye development

Acetylation of TBX5 by KAT2B and KAT2A regulates heart and limb development.

Assignment of human ferritin genes to chromosomes 11 and 19q13.3----19qter

Body composition and clinical outcome measures in patients with myotonic dystrophy type 1.

CDK12 inhibition reduces abnormalities in cells from patients with myotonic dystrophy and in a mouse model

Characterization of a YAC and cosmid contig containing markers tightly linked to the myotonic dystrophy locus on chromosome 19 ⬇️

Chromosomal assignment of c-MEL, a human transforming oncogene, to chromosome 19 (p13.2-q13.2)

Clinical and molecular aspects of the myotonic dystrophies: a review.

Confirmation and refinement of the localisation of the c-MEL locus on chromosome 19 by physical and genetic mapping

Correction: The miR-30 MicroRNA Family Targets smoothened to Regulate Hedgehog Signalling in Zebrafish Early Muscle Development

Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Expanded CUG repeats Dysregulate RNA splicing by altering the stoichiometry of the muscleblind 1 complex.

Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts.

Further mapping of markers around the centromere of human chromosome 19

HDAC4 and 5 repression of TBX5 is relieved by protein kinase D1

High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines

Human glandular kallikrein genes: Genetic and physical mapping of the KLK1 locus using a highly polymorphic microsatellite PCR marker ⬇️

Identification, mapping, and phylogenomic analysis of four new human members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19

Linkage relationships of the insulin receptor gene with the complement component 3, LDL receptor, apolipoprotein C2 and myotonic dystrophy loci on chromosome 19

Localisation of genetic markers and orientation of the linkage group on chromosome 19

Loss of Heterozygosity in Bilateral Breast Cancer

Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

Physical interaction between TBX5 and MEF2C is required for early heart development.

Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy.

Radiation-reduced hybrids for the myotonic dystrophy locus ⬇️

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

Rare variants in NR2F2 cause congenital heart defects in humans

Recent advances in congenital heart disease genomics.

Regional localisations and linkage relationships of seven RFLPs and myotonic dystrophy on chromosome 19

Retreat of the triplet repeat?

Six transcripts map within 200 kilobases of the myotonic dystrophy expanded repeat.

Small Molecules Which Improve Pathogenesis of Myotonic Dystrophy Type 1.

Testing for the chemical induction of aneuploidy in the male mouse

Testing of 3 chemical compounds for aneuploidy induction in the female mouse

The Impact of Mechanical Forces in Heart Morphogenesis ⬇️

The amyloid precursor-like protein (APLP) gene maps to the long arm of human chromosome 19

The apolipoprotein CII gene: subchromosomal localisation and linkage to the myotonic dystrophy locus

The effect of 4CMB on germ cells of the mouse

The miR-30 microRNA family targets smoothened to regulate hedgehog signalling in zebrafish early muscle development.

The physical map of chromosome arm 19q: some new assignments, confirmations and re-assessments

Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects

Unstable DNA sequence in myotonic dystrophy

Zebrafish deficient for Muscleblind-like 2 exhibit features of myotonic dystrophy.

α-cardiac actin mutations produce atrial septal defects