J. R. Yates

Details der Publikationsliste

Zeitraum

1960 - 2010

Anzahl

91

Co-Autoren

ECF15 IDENTIFICATION OF FATIGUE DAMAGING EVENTS USING A WAVELET-BASED FATIGUE DATA EDITING ALGORITHM (2008)

S. Abdullah, J. A. Giacomin, J. R. Yates

This paper describes a technique to identify the important features in fatigue road load data that cause the majority of the total damage. Fatigue damaging events, called bumps, are extracted from...

Crack paths under mixed mode loading (2008)

Yates, J.R., Zanganeh, M., Tomlinson, R.A., Brown, M.W., Diaz Garrido, F.A.

Long fatigue cracks that initially experience mixed mode displacements usually change direction in response to cyclic elastic stresses. Eventually the cracks tend to orient themselves into a pure...

Crack paths under mixed mode loading (2008)

Yates, J.R., Zanganeh, M., Tomlinson, R.A., Brown, M.W., Garrido, F.A.D.

Long fatigue cracks that initially experience mixed mode displacements usually change direction in response to cyclic elastic stresses. Eventually the cracks tend to orient themselves into a pure...

Ductile Fracture Behaviour under Mode I Loading Using Rousellier Ductile Damage Theory (2008)

Oh, Dong-Joon, Howard, I.C., Yates, J.R.

The aim of this study is to investigate the ductile fracture behaviour under Mode I loading using SA533B pressure vessel steel. Experiments consist of the Round Notch Bar Test (RNB), Single Edge...

T-stress determination using thermoelastic stress analysis (2008)

Zanganeh, M., Tomlinson, R.A., Yates, J.R.

T-stress and mixed-mode stress intensity factors have been determined experimentally using thermoelastic stress analysis and using a finite element method. Pure mode I, strong mixed-mode I and II,...

Determination of micro-scale plastic strain caused by orthogonal cutting (2008)

Ghadbeigi, H., Bradbury, S.R., Pinna, C., Yates, J.R.

An electron beam lithography technique has been used to produce microgrids in order to measure local plastic strains, induced during an orthogonal cutting process, at the microscopic scale in the...

Wannier90: A Tool for Obtaining Maximally-Localised Wannier Functions (2007)

Mostofi, A. A., Yates, J. R., Lee, Y. -S., Souza, I., Vanderbilt, D., Marzari, N.

We present Wannier90, a program for calculating maximally-localised Wannier functions (MLWF) from a set of Bloch energy bands that may or may not be attached to or mixed with other bands. The...

The minimum information about a proteomics experiment (MIAPE) (2007)

Taylor, C.F., Paton, N.W., Lilley, K.S., Binz, P-A, Julian, R.K., Jones, A.R., ...

Both the generation and the analysis of proteomics data are now widespread, and high-throughput approaches are commonplace. Protocols continue to increase in complexity as methods and technologies...

Explicit equations for leak rates through narrow cracks (2005)

Beck, S.B.M., Bagshaw, N.M., Yates, J.R.

Explicit equations to describe the leak rate of a single phase fluid through a narrow crack under a low pressure gradient have been developed and are presented. Four distinct flow regimes, which...

A comprehensive survey of the plasmodium life cycle by genomic, transcriptomic, and proteomic analyses (2005)

Hall, N., Karras, M., Raine, J.D., Carlton, J.M., Kooij, T.W.A., Berriman, M., ...

Plasmodium berghei and Plasmodium chabaudi are widely used model malaria species. Comparison of their genomes, integrated with proteomic and microarray data, with the genomes of Plasmodium falciparum...

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome (2005)

Beysen, D., Raes, J., Leroy, B. P., Lucassen, A., Yates, J. R., Clayton-Smith, J., ...

The expression of a gene requires not only a normal coding sequence but also intact regulatory regions, which can be located at large distances from the target genes, as demonstrated for an...

Measuring stress intensity factors during fatigue crack growth using thermoelasticity (2004)

Di­az, F.A., Patterson, E.A., Tomlinson, R.A., Yates, J.R.

Thermoelastic stress analysis has been developed in recent years as a direct method of investigating the crack tip stresses in a structure under cyclic loading. This is a consequence of the fact that...

Mutations in the CACNA1F and NYX genes in British CSNBX families (2003)

Zito, I., Allen, L.E., Patel, R.J., Meindl, A., Bradshaw, K., Yates, J.R., ...

X-linked congenital stationary night blindness (CSNBX) is a genetically and phenotypically heterogeneous non-progressive disorder, characterised by impaired night vision but grossly normal retinal...

Nonsense-mediated RNA decay in the TSC1 gene suggests a useful tool pre- and post-positional cloning (2002)

Jeganathan, D., Fox, M.F., Young, J.M., Yates, J.R., Osborne, J.P., Povey, S.

Many mRNAs carrying mutations that are predicted to encode a truncated protein are subject to a mechanism known as nonsense-mediated mRNA decay (NMD), which results in reduced levels of mutant...

Charting the protein complexome in yeast by mass spectrometry (2002)

Deshaies, R. J., Seol, J. H., McDonald, W. H., Cope, G., Lyapina, S., Shevchenko, A., ...

It has become evident over the past few years that many complex cellular processes, including control of the cell cycle and ubiquitin-dependent proteolysis, are carried out by sophisticated...

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation (2001)

Van Bokhoven, H ; JFA; CORA, Hamel, B C, Bamshad, M, Sangiorgi, E, Gurrieri, F, Duijf, P H, ...

p63 mutations have been associated with EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip/palate), as well as with nonsyndromic split hand-split foot malformation (SHFM). We performed...

Implication of a novel multiprotein Dam1p complex in outer kinetochore function (2001)

Cheeseman, I. M., Brew, C., Wolyniak, M., Desai, A., Anderson, S., Muster, N., ...

Dam1p, Duo1p, and Dad1p can associate with each other physically and are required for both spindle integrity and kinetochore function in budding yeast. Here, we present our purification from yeast...

The Effect of Specimen Geometry on Short-Crack Growth Behaviour of a Nickel-Based Superalloy. (1998)

Grabowski, L., Yates, J. R.

An investigation has been conducted on the influence of specimen geometries on the short fatigue crack growth behavior of Waspaloy. Geometries tested were: tension, three-point bend, four-point bend...

The Bending Fatigue Behaviour of Unidirectionally Reinforced SCS6/Ti-15-3. (1998)

Greaves, I., Yates, J. R., Atkinson, H. V.

The fatigue behaviour of textron scs-6/ti-15-3, a commercial, unidirectionally reinforced metal-matrix composite, has been investigated. tests were conducted at room temperature on plain unnotched...

The Role of the Interface in the Initiation of Fatigue Cracks in SCS-6/Titanium MMCs. (1998)

Greaves, I., Yates, J. R., Atkinson, H. V.

This paper concerned mmc in some important way and contained information about, utilized, or discussed these subjects: basic topics:, cr mmc, data, experimental, mmc, mmc data materials and material...

Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase.

Mononen, I, Heisterkamp, N, Kaartinen, V, Williams, J C, Yates, J R, Griffin, P R, ...

Aspartylglycosaminuria is an inherited lysosomal storage disease caused by deficiency of glycoasparaginase (EC 3.5.1.26) and occurs with higher frequency among Finns than other populations. We have...

Dual Roles for Spt5 in Pre-mRNA Processing and Transcription Elongation Revealed by Identification of Spt5-Associated Proteins

Lindstrom, D. L., Squazzo, S. L., Muster, N., Burckin, T. A., Wachter, K. C., Emigh, C. A., ...

During transcription elongation, eukaryotic RNA polymerase II (Pol II) must contend with the barrier presented by nucleosomes. The conserved Spt4-Spt5 complex has been proposed to regulate elongation...

Sequence similarities in the genes encoding polychlorinated biphenyl degradation by Pseudomonas strain LB400 and Alcaligenes eutrophus H850.

Yates, J R, Mondello, F J

DNA-DNA hybridization was used to compare the Pseudomonas strain LB400 genes for polychlorinated biphenyl (PCB) degradation with those from seven other PCB-degrading strains. Significant...

Two families of repeated DNA sequences in Thiobacillus ferrooxidans.

Yates, J R, Holmes, D S

The genome of Thiobacillus ferrooxidans ATCC 19859 is about 2.8 X 10(6) base pairs as determined by analysis of reassociation kinetics of sheared DNA. This is 70% of the size of the genome of...

IST2: an insertion sequence from Thiobacillus ferrooxidans.

Yates, J R, Cunningham, R P, Holmes, D S

The genome of Thiobacillus ferrooxidans (strain ATCC 19859) contains at least two families of repeated sequences, termed family 1 and 2. The nucleotide sequence of a family 2 member was determined....

Structural characterization of toxic cyclic peptides from blue-green algae by tandem mass spectrometry.

Krishnamurthy, T, Szafraniec, L, Hunt, D F, Shabanowitz, J, Yates, J R, Hauer, C R, ...

Combined use of chemical degradation, derivatization, and tandem mass spectrometry for rapid structural characterization of toxic cyclic peptides from blue-green algae at the nanomole level is...

Tandem quadrupole Fourier-transform mass spectrometry of oligopeptides and small proteins.

Hunt, D F, Shabanowitz, J, Yates, J R, Zhu, N Z, Russell, D H, Castro, M E

Modifications to the newly developed tandem quadrupole Fourier-transform mass spectrometer have made it possible to record mass spectra on oligopeptides and small proteins in the mass range between 2...

Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency).

Gillard, E F, Affara, N A, Yates, J R, Goudie, D R, Lambert, J, Aitken, D A, ...

Deficiency of steroid sulphatase (STS) is associated with ichthyosis, with failure of the placental production of oestriol in late pregnancy and with difficulties in childbirth. The STS gene has been...

Protein sequencing by tandem mass spectrometry.

Hunt, D F, Yates, J R, Shabanowitz, J, Winston, S, Hauer, C R

Methodology for determining amino acid sequences of proteins by tandem mass spectrometry is described. The approach involves enzymatic and/or chemical degradation of the protein to a collection of...

TRAPP, a highly conserved novel complex on the cis-Golgi that mediates vesicle docking and fusion.

Sacher, M, Jiang, Y, Barrowman, J, Scarpa, A, Burston, J, Zhang, L, ...

We previously identified BET3 by its genetic interactions with BET1, a gene whose SNARE-like product acts in endoplasmic reticulum (ER)-to-Golgi transport. To gain insight into the function of Bet3p,...

A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families.

Burrows, N P, Nicholls, A C, Richards, A J, Luccarini, C, Harrison, J B, Yates, J R, ...

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective-tissue disorders characterized by skin fragility, joint laxity, and skeletal deformities. Type V collagen appears to have a causal...

Hemoglobin E: a common hemoglobinopathy among children of Southeast Asian origin.

Katsanis, E, Luke, K H, Hsu, E, Yates, J R

With the recent immigration of Southeast Asians to Canada, hemoglobin E has become a frequent diagnosis. The clinical and hematologic findings in 42 children (mean age 4.3 years) with hemoglobin E...

Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase.

Mononen, I, Heisterkamp, N, Kaartinen, V, Williams, J C, Yates, J R, Griffin, P R, ...

Aspartylglycosaminuria is an inherited lysosomal storage disease caused by deficiency of glycoasparaginase (EC 3.5.1.26) and occurs with higher frequency among Finns than other populations. We have...

Dual Roles for Spt5 in Pre-mRNA Processing and Transcription Elongation Revealed by Identification of Spt5-Associated Proteins

Lindstrom, D. L., Squazzo, S. L., Muster, N., Burckin, T. A., Wachter, K. C., Emigh, C. A., ...

During transcription elongation, eukaryotic RNA polymerase II (Pol II) must contend with the barrier presented by nucleosomes. The conserved Spt4-Spt5 complex has been proposed to regulate elongation...

Sequence similarities in the genes encoding polychlorinated biphenyl degradation by Pseudomonas strain LB400 and Alcaligenes eutrophus H850.

Yates, J R, Mondello, F J

DNA-DNA hybridization was used to compare the Pseudomonas strain LB400 genes for polychlorinated biphenyl (PCB) degradation with those from seven other PCB-degrading strains. Significant...

Two families of repeated DNA sequences in Thiobacillus ferrooxidans.

Yates, J R, Holmes, D S

The genome of Thiobacillus ferrooxidans ATCC 19859 is about 2.8 X 10(6) base pairs as determined by analysis of reassociation kinetics of sheared DNA. This is 70% of the size of the genome of...

IST2: an insertion sequence from Thiobacillus ferrooxidans.

Yates, J R, Cunningham, R P, Holmes, D S

The genome of Thiobacillus ferrooxidans (strain ATCC 19859) contains at least two families of repeated sequences, termed family 1 and 2. The nucleotide sequence of a family 2 member was determined....

Structural characterization of toxic cyclic peptides from blue-green algae by tandem mass spectrometry.

Krishnamurthy, T, Szafraniec, L, Hunt, D F, Shabanowitz, J, Yates, J R, Hauer, C R, ...

Combined use of chemical degradation, derivatization, and tandem mass spectrometry for rapid structural characterization of toxic cyclic peptides from blue-green algae at the nanomole level is...

Tandem quadrupole Fourier-transform mass spectrometry of oligopeptides and small proteins.

Hunt, D F, Shabanowitz, J, Yates, J R, Zhu, N Z, Russell, D H, Castro, M E

Modifications to the newly developed tandem quadrupole Fourier-transform mass spectrometer have made it possible to record mass spectra on oligopeptides and small proteins in the mass range between 2...

Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency).

Gillard, E F, Affara, N A, Yates, J R, Goudie, D R, Lambert, J, Aitken, D A, ...

Deficiency of steroid sulphatase (STS) is associated with ichthyosis, with failure of the placental production of oestriol in late pregnancy and with difficulties in childbirth. The STS gene has been...

Protein sequencing by tandem mass spectrometry.

Hunt, D F, Yates, J R, Shabanowitz, J, Winston, S, Hauer, C R

Methodology for determining amino acid sequences of proteins by tandem mass spectrometry is described. The approach involves enzymatic and/or chemical degradation of the protein to a collection of...

TRAPP, a highly conserved novel complex on the cis-Golgi that mediates vesicle docking and fusion.

Sacher, M, Jiang, Y, Barrowman, J, Scarpa, A, Burston, J, Zhang, L, ...

We previously identified BET3 by its genetic interactions with BET1, a gene whose SNARE-like product acts in endoplasmic reticulum (ER)-to-Golgi transport. To gain insight into the function of Bet3p,...

A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families.

Burrows, N P, Nicholls, A C, Richards, A J, Luccarini, C, Harrison, J B, Yates, J R, ...

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective-tissue disorders characterized by skin fragility, joint laxity, and skeletal deformities. Type V collagen appears to have a causal...

Hemoglobin E: a common hemoglobinopathy among children of Southeast Asian origin.

Katsanis, E, Luke, K H, Hsu, E, Yates, J R

With the recent immigration of Southeast Asians to Canada, hemoglobin E has become a frequent diagnosis. The clinical and hematologic findings in 42 children (mean age 4.3 years) with hemoglobin E...

RNA polymerase II elongation factors Spt4p and Spt5p play roles in transcription elongation by RNA polymerase I and rRNA processing

Schneider, D. A., French, S. L., Osheim, Y. N., Bailey, A. O., Vu, L., Dodd, J., ...

Previous investigations into the mechanisms that control RNA Polymerase (Pol) I transcription have primarily focused on the process of transcription initiation, thus little is known regarding...

Clinical features of affected males with X linked ocular albinism.

Charles, S J, Green, J S, Grant, J W, Yates, J R, Moore, A T

Seventy four males affected by X linked ocular albinism (XLOA) from 19 pedigrees were examined to assess phenotypic variation and visual prognosis. Nystagmus was present in all cases except one. Best...

Carrier detection in X linked ocular albinism using linked DNA polymorphisms.

Charles, S J, Moore, A T, Zhang, Y, McMahon, R, Barton, D E, Yates, J R

Sixty two females at 50% carrier risk were assessed from 19 families affected by X linked ocular albinism (OA1). Twenty nine (47%) had definite fundus changes of the carrier state with a mud...

Infantile presentation of X linked retinoschisis.

George, N D, Yates, J R, Bradshaw, K, Moore, A T

Five infants who presented with nystagmus and/or strabismus were found to have bilateral highly elevated bullous retinoschisis involving the macula. Haemorrhage was present within the schisis cavity...

Congenital corneal anaesthesia and the MURCS association: a case report.

Esakowitz, L, Yates, J R

Bilateral corneal anaesthesia and reduced sensation in the distribution of the ophthalmic division of the fifth cranial nerve associated with neuroparalytic keratitis and reduced vision is described...

Genotype-phenotype correlation in British families with X linked congenital stationary night blindness

Allen, L E, Zito, I, Bradshaw, K, Patel, R J, Bird, A C, Fitzke, F, ...

Aim: To correlate the phenotype of X linked congenital stationary night blindness (CSNBX) with genotype.

A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom.

Knight, S. J., Ritchie, R. J., Chakrabarti, L., Cross, G., Taylor, G. R., Mueller, R. F., ...

The folate-sensitive fragile site FRAXE is located in proximal Xq28 of the human X chromosome and lies approximately 600 kb distal to the fragile X syndrome (FRAXA) fragile site at Xq27.3. The...

Complete enzymatic deglycosylation of native sex steroid-binding protein (SBP or SHBG) of human and rabbit plasma: effect on the steroid-binding activity.

Petra, P. H., Griffin, P. R., Yates, J. R., Moore, K., Zhang, W.

An enzymatic procedure for the complete removal of the N-linked and O-linked oligosaccharide side chains of the sex steroid-binding proteins (SBP or SHBG) of human and rabbit plasma under native...

High throughput protein characterization by automated reverse-phase chromatography/electrospray tandem mass spectrometry.

Ducret, A., Van Oostveen, I., Eng, J. K., Yates, J. R., Aebersold, R.

We describe an integrated workstation for the automated, high-throughput, and conclusive identification of proteins by reverse-phase chromatography electrospray ionization tandem mass spectrometry....

Evidence for genetic heterogeneity in tuberous sclerosis.

Sampson, J R, Yates, J R, Pirrit, L A, Fleury, P, Winship, I, Beighton, P, ...

The question of genetic heterogeneity in tuberous sclerosis (TSC) was addressed by genetic linkage studies in eight affected families using nine polymorphic markers (EFD126.3, MCT136, ABO, ABL, AK1,...

Genetic mapping of X linked ocular albinism: linkage analysis in British families.

Charles, S J, Moore, A T, Yates, J R

Genetic linkage studies were performed in 16 British families affected by X linked ocular albinism (XLOA) using RFLPs from the Xp22.3 region. Linkage was confirmed between the XLOA locus (OA1) and...

Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers.

Maher, E R, Bentley, E, Payne, S J, Latif, F, Richards, F M, Chiano, M, ...

Von Hippel-Lindau (VHL) disease is a dominantly inherited cancer syndrome characterised by the development of retinal, cerebellar, and spinal haemangioblastomas, renal cell carcinoma, and...

Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.

Yates, J R, Warner, J P, Smith, J A, Deymeer, F, Azulay, J P, Hausmanowa-Petrusewicz, I, ...

Emery-Dreifuss muscular dystrophy (EMD) is characterised by (1) early contractures of the Achilles tendons, elbows, and postcervical muscles, (2) slowly progressive muscle wasting and weakness with a...

Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci.

Zhang, Y, McMahon, R, Charles, S J, Green, J S, Moore, A T, Barton, D E, ...

The X linked form of Kallmann syndrome (KAL) and X linked ocular albinism (OA1) have both been mapped to Xp22.3. We have used a dinucleotide repeat polymorphism at the Kallmann locus to type 17 X...

Von Hippel-Lindau disease: a genetic study.

Maher, E R, Iselius, L, Yates, J R, Littler, M, Benjamin, C, Harris, R, ...

Genetic aspects of von Hippel-Lindau (VHL) disease were studied in familial and isolated cases. Complex segregation analysis with pointers was performed in 38 kindreds with two or more affected...

Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic cerebellar haemangioblastoma and renal cell carcinoma.

Maher, E R, Yates, J R, Ferguson-Smith, M A

Analysis of the age incidence curves for unilateral and bilateral retinoblastoma led Knudson to propose that hereditary tumours may arise by a single event and sporadic tumours by a two stage...

Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction.

Charles, S J, Moore, A T, Yates, J R, Green, T, Clark, P

We report a case of Alstrom's syndrome with hypothyroidism in addition to the cardinal features of blindness, deafness, obesity, and insulin dependent diabetes mellitus. The parents were first...

Concordant monozygotic twins with bilateral renal agenesis.

Yates, J R, Mortimer, G, Connor, J M, Duke, J E

We report the unique observation of monozygotic twins concordant for bilateral renal agenesis.

A population study of adult onset limb-girdle muscular dystrophy.

Yates, J R, Emery, A E

Complete ascertainment of adult onset limb-girdle muscular dystrophy in the Lothian Region of Scotland was attempted. Ten index cases were identified giving a prevalence of 1.3 per 100 000 (0.9 per...

Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII gene.

Yates, J R, Affara, N A, Jamieson, D M, Ferguson-Smith, M A, Hausmanowa-Petrusewicz, I, Zaremba, J, ...

Two families with Emery-Dreifuss muscular dystrophy (EMD) have been studied with DNA markers mapping to Xq27.3----qter. No recombination was observed in 11 phase known meioses informative for the...

Linkage analysis using multiple Xq DNA polymorphisms in normal families, families with the fragile X syndrome, and other families with X linked conditions.

Connor, J M, Pirrit, L A, Yates, J R, Crossley, J A, Imrie, S J, Colgan, J M

Multipoint linkage analysis was undertaken with eight Xq cloned DNA sequences which identify one or more restriction fragment length polymorphisms in 26 families. These families comprise seven phase...

Chimaerism shown by cytogenetics and DNA polymorphism analysis.

Green, A J, Barton, D E, Jenks, P, Pearson, J, Yates, J R

A child with ambiguous genitalia, brought up phenotypically male, had a 46,XX/46,XY karyotype. At laparotomy, he had a left sided ovary and uterus, and a right sided scrotal testis. The 46,XX line...

Linkage of the tuberous sclerosis locus to a DNA polymorphism detected by v-abl.

Connor, J M, Pirrit, L A, Yates, J R, Fryer, A E, Ferguson-Smith, M A

Linkage analysis was undertaken in six families with tuberous sclerosis (TS) using a restriction fragment length polymorphism detected by v-abl. No recombinants were observed in 13 informative...

Improved genetic mapping of X linked retinoschisis.

George, N D, Payne, S J, Bill, R M, Barton, D E, Moore, A T, Yates, J R

X linked retinoschisis (RS) causes poor vision in affected males owing to radial cystic changes at the macula. Genetic linkage analysis was carried out in 16 British families with X linked...

Loss of heterozygosity in tuberous sclerosis hamartomas.

Sepp, T, Yates, J R, Green, A J

We have previously described in tuberous sclerosis (TSC) hamartomas the phenomenon of loss of heterozygosity (LOH) for DNA markers in the region of both the TSC2 gene on chromosome 16p13.3 and the...

Instability of normal (CTG)n alleles in the DM kinase gene.

Dow, D J, Rubinsztein, D C, Yates, J R, Barton, D E, Ferguson-Smith, M A

We report on a myotonic dystrophy (DM) family exhibiting instability of normal sized (CTG)n alleles in the DM kinase gene on the non-DM chromosome. At least two mutational events involving normal DM...

Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance.

Barber, J C, Joyce, C A, Collinson, M N, Nicholson, J C, Willatt, L R, Dyson, H M, ...

We present seven families with a cytogenetic duplication of the short arm of chromosome 8 at band 8p23.1. The duplication has been transmitted from parents to offspring in four of the seven families....

Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing.

Timms, K M, Edwards, F J, Belmont, J W, Yates, J R, Gibbs, R A

Deficiency of iduronate-2-sulphatase (IDS) results in the X linked recessive lysosomal storage disorder Hunter syndrome. Determination of carrier status in families affected by this disorder has been...

Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.

Ali, J B, Sepp, T, Ward, S, Green, A J, Yates, J R

Tuberous sclerosis (TSC) is an autosomal dominant disorder characterised by tumour-like malformations (hamartomas) of the brain, skin, and other organs, often associated with seizures and learning...

Cystic fibrosis identified by neonatal screening: incidence, genotype, and early natural history.

Green, M R, Weaver, L T, Heeley, A F, Nicholson, K, Kuzemko, J A, Barton, D E, ...

The incidence of cystic fibrosis over the last 10 years in East Anglia (a region of the United Kingdom with a population of 2.1 million) has halved. This has happened during the establishment of a...

Severe microcephaly with normal intellectual development: the Nijmegen breakage syndrome.

Green, A J, Yates, J R, Taylor, A M, Biggs, P, McGuire, G M, McConville, C M, ...

A brother and sister are described with severe microcephaly of prenatal onset, normal intellectual and motor development, chromosomal breakage and cellular immunodeficiency, which is characteristic...

DNA replication checkpoint promotes G1-S transcription by inactivating the MBF repressor Nrm1

De Bruin, R. A. M., Kalashnikova, T. I., Aslanian, A., Wohlschlegel, J., Chahwan, C., Yates, J. R., ...

The cell cycle transcriptional program imposes order on events of the cell-cycle and is a target for signals that regulate cell-cycle progression, including checkpoints required to maintain genome...