User profiles for JD Brook
J David BrookProfessor of Human Genetics, University of Nottingham Verified email at nottingham.ac.uk Cited by 19611 |
T-box genes in human disorders
EA Packham, JD Brook - Human molecular genetics, 2003 - academic.oup.com
The T-box gene family encodes a large family of transcription factors with more than 20
members identified in humans so far, and homologues in many other organisms. A number of …
members identified in humans so far, and homologues in many other organisms. A number of …
Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
JD Brook, ME McCurrach, HG Harley, AJ Buckler… - Cell, 1992 - cell.com
Using positional cloning strategies, we have identified a CTG triplet repeat that undergoes
expansion in myotonic dystrophy patients. This sequence is highly variable in the normal …
expansion in myotonic dystrophy patients. This sequence is highly variable in the normal …
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
…, S Mansour, ID Young, PN Goodfellow, JD Brook… - Nature, 1994 - nature.com
Induction of testis development in mammals requires the presence of the Y-chromosome
gene SPY. This gene must exert its effect by interacting with other genes in the sex-…
gene SPY. This gene must exert its effect by interacting with other genes in the sex-…
Targeted integration of adeno‐associated virus (AAV) into human chromosome 19.
RJ Samulski, X Zhu, X Xiao, JD Brook… - The EMBO …, 1991 - embopress.org
A key feature in adeno‐associated virus (AAV) replication is efficient integration of the viral
genome into host cell DNA to establish latency when helper virus is absent. The steps …
genome into host cell DNA to establish latency when helper virus is absent. The steps …
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
…, JA Raeburn, AJ Buckler, DJ Law, JD Brook - Nature …, 1997 - nature.com
Holt-Oram syndrome is a developmental disorder affecting the heart and upper limb, the gene
for which was mapped to chromosome 12 two years ago. We have now identified a gene …
for which was mapped to chromosome 12 two years ago. We have now identified a gene …
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
HG Harley, JD Brook, SA Rundle, S Crow, W Reardon… - Nature, 1992 - nature.com
MYOTONIC Received 2 December 1991; accepted 7 January 1992. dystrophy is the commonest
adult form of muscular dystrophy, with an estimated incidence of 1 per 7,500, although …
adult form of muscular dystrophy, with an estimated incidence of 1 per 7,500, although …
The impact of mechanical forces in heart morphogenesis
JT Granados-Riveron, JD Brook - Circulation: Cardiovascular …, 2012 - Am Heart Assoc
Congenital heart disease (CHD) is the most common birth defect in humans and results from
deficient cardiac development, a complex process that is not completely understood. The …
deficient cardiac development, a complex process that is not completely understood. The …
Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells
…, MG Hamshere, PS Harper, JD Brook - Human molecular …, 2002 - academic.oup.com
Myotonic dystrophy is a complex neuromuscular disorder associated with DNA expansion
mutations in two different genes. In DM1 a CTG repeat in the 3′-untranslated region of DMPK …
mutations in two different genes. In DM1 a CTG repeat in the 3′-untranslated region of DMPK …
Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy.
…, JC MacMillan, J Myring, JD Brook… - American journal of …, 1993 - ncbi.nlm.nih.gov
A clinical and molecular analysis of 439 individuals affected with myotonic dystrophy, from
101 kindreds, has shown that the size of the unstable CTG repeat detected in nearly all cases …
101 kindreds, has shown that the size of the unstable CTG repeat detected in nearly all cases …
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
Congenital heart defects (CHDs) have a neonatal incidence of 0.8–1% (refs. 1 , 2 ). Despite
abundant examples of monogenic CHD in humans and mice, CHD has a low absolute …
abundant examples of monogenic CHD in humans and mice, CHD has a low absolute …