Little, Hayley J., Rorick, Nicholas K., Su, Ling-I, Baldock, Clair, Malhotra, Saimon, Jowitt, Tom, ...
Cleft lip and cleft palate (CLP) are common disorders that occur either as part of a syndrome, where structures other than the lip and palate are affected, or in the absence of other anomalies. Van...
Richardson, Rebecca J., Dixon, Jill, Jiang, Rulang, Dixon, Michael J.
In mammals, adhesion and fusion of the palatal shelves are essential mechanisms during the development of the secondary palate; failure of these processes leads to the congenital anomaly, cleft...
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia (2008)
Barron, Martin J, McDonnell, Sinead T, MacKie, Iain, Dixon, Michael J
Abstract The hereditary dentine disorders, dentinogenesis imperfecta (DGI) and dentine dysplasia (DD), comprise a group of autosomal dominant genetic conditions characterised by abnormal dentine...
The cell adhesion molecule nectin-1 is critical for normal enamel formation in mice (2008)
Barron, Martin J., Brookes, Steven J., Draper, Clare E., Garrod, David, Kirkham, Jennifer, Shore, Roger C., ...
Nectin-1 is a member of a sub-family of immunoglobulin-like adhesion molecules and a component of adherens junctions. In the current study, we have shown that mice lacking nectin-1 exhibit defective...
The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation (2005)
Gonzales, Bianca, Henning, Dale, So, Rolando B., Dixon, Jill, Dixon, Michael J., Valdez, Benigno C.
Treacher Collins syndrome (TCS) is characterized by defects in craniofacial development, which results from mutations in the TCOF1 gene. TCOF1 encodes the nucleolar phosphoprotein treacle, which...
The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation (2005)
Gonzales, Bianca, Henning, Dale, So, Rolando B., Dixon, Jill, Dixon, Michael J., Valdez, Benigno C.
Treacher Collins syndrome (TCS) is characterized by defects in craniofacial development that result from mutations in the TCOF1 gene. TCOF1 encodes the nucleolar phosphoprotein treacle which...
DNA elements important for CAG{middle dot}CTG repeat thresholds in Saccharomyces cerevisiae (2004)
Dixon, Michael J., Lahue, Robert S.
Trinucleotide repeat (TNR) instability is of interest because of its central role in human diseases such as Huntington’s and its unique genetic features. One distinctive characteristic of TNR...
Rajpar, M. Helen, Koch, Martin J., Davies, Robin M., Mellody, Kieran T., Kielty, Cay M., Dixon, Michael J.
Dentine dysplasia type II is an autosomal dominant disorder in which mineralization of the dentine of the primary teeth is abnormal. On the basis of the phenotypic overlap between, and shared...
De Baere, Elfride, Dixon, Michael J., Small, Kent W., Jabs, Ethylin W., Leroy, Bart P., Devriendt, Koenraad, ...
Mutations in FOXL2, a forkhead transcription factor gene, have recently been shown to cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) types I and II, a rare genetic disorder. In...
Rajpar, M. Helen, Harley, Kathryn, Laing, Chris, Davies, Robin M., Dixon, Michael J.
Amelogenesis imperfecta (AI) is a group of inherited defects of dental enamel formation that shows both clinical and genetic heterogeneity. To date, mutations in the gene encoding amelogenin have...
Mutation of the gene encoding fibrillin-2 results in syndactyly in mice (2001)
Chaudhry, Shazia S., Gazzard, James, Baldock, Clair, Dixon, Jill, Rock, Matthew J., Skinner, Gail C., ...
Fibrillins are large, cysteine-rich glycoproteins that form microfibrils and play a central role in elastic fibrillogenesis. Fibrillin-1 and fibrillin-2, encoded by FBN1 on chromosome 15q21.1 and...
Schutte, Brian C., Bjork, Bryan C., Coppage, Kevin B., Malik, Margaret I., Gregory, Simon G., Scott, Deborah J., ...
Dixon, Jill, Brakebusch, Cord, Fässler, Reinhard, Dixon, Michael J.
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of human craniofacial development that results from loss-of-function mutations in the gene TCOF1. Although this gene has been...
Lumsden,Joanne M., Lord,Eric A., Hirst,Karen L., Dixon,Michael J., Montgomery,Grant W.
Genes from sheep chromosome 6 map to human chromosome 4 in the region extending from 4p16 to 4q26. However, there is an inversion of gene order in the central portion of the chromosome with one...
An Overdue Post-Cold War Army Structure (1998)
Over the past five years, the United States Army (USA) has taken significant actions to increase its readiness and relevance to Joint Force Commander (JFC). The Army has rapidly aligned itself with...
Lawson, Claire T., Toomes, Carmel, Fryer, Alan, Carette, Martin J.M., Taylor, G.Malcolm, Fukushima, Yoshimitsu, ...
Blepharophimosis syndrome (BPES) is an autosomal dominant disorder of craniofacial development, the features of which are small palpebral fissures (blepharophimosis), drooping eyelids (ptosis) and a...
Loftus, Stacie K., Edwards, Sara J., Scherpbier-Heddema, Titia, Buetow, Kenneth H., Wasmuth, John J., Dixon, Michael J.
The distal region of chromosome 5q contains a large number of genes, including those implicated in a variety of Mendelian disorders. One of these, Treacher Collins syndrome (TCOF1), is an autosomal...
Dixon, Michael J., Dixon, Jill, Raskova, Dagmar, Le Beau, Michelle M., Williamson, Robert, Kinger, Katherine, ...
Treacher Collins syndrome (TCOF1) is an autosomal dominant disorder of craniofacial development, the locus for which has been chromosomally localized to 5q31-34. We have isolated four hypervarlable...
Characterization of the Nucleolar Gene Product, Treacle, in Treacher Collins Syndrome
Isaac, Cynthia, Marsh, Karen L., Paznekas, William A., Dixon, Jill, Dixon, Michael J., Jabs, Ethylin Wang, ...
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development caused by mutations in the gene TCOF1. Its gene product, treacle, consists mainly of a central repeat...
Schutte, Brian C., Bjork, Bryan C., Coppage, Kevin B., Malik, Margaret I., Gregory, Simon G., Scott, Deborah J., ...
Van der Woude syndrome (VWS) is a common form of syndromic cleft lip and palate and accounts for ∼2% of all cleft lip and palate cases. Distinguishing characteristics include cleft lip with or...
DNA elements important for CAG·CTG repeat thresholds in Saccharomyces cerevisiae
Dixon, Michael J., Lahue, Robert S.
Trinucleotide repeat (TNR) instability is of interest because of its central role in human diseases such as Huntington’s and its unique genetic features. One distinctive characteristic of TNR...
Valdez, Benigno C., Henning, Dale, So, Rolando B., Dixon, Jill, Dixon, Michael J.
Treacher Collins syndrome (TCS) is an autosomal dominant disorder characterized by an abnormality of craniofacial development that arises during early embryogenesis. TCS is caused by mutations in the...
Bhattacharyya, Saumitri, Rolfsmeier, Michael L, Dixon, Michael J, Wagoner, Kara, Lahue, Robert S
Trinucleotide repeats (TNRs) undergo frequent mutations in families affected by TNR diseases and in model organisms. Much of the instability is conferred in cis by the sequence and length of the...
Characterization of the Nucleolar Gene Product, Treacle, in Treacher Collins Syndrome
Isaac, Cynthia, Marsh, Karen L., Paznekas, William A., Dixon, Jill, Dixon, Michael J., Jabs, Ethylin Wang, ...
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development caused by mutations in the gene TCOF1. Its gene product, treacle, consists mainly of a central repeat...
Schutte, Brian C., Bjork, Bryan C., Coppage, Kevin B., Malik, Margaret I., Gregory, Simon G., Scott, Deborah J., ...
Van der Woude syndrome (VWS) is a common form of syndromic cleft lip and palate and accounts for ∼2% of all cleft lip and palate cases. Distinguishing characteristics include cleft lip with or...
DNA elements important for CAG·CTG repeat thresholds in Saccharomyces cerevisiae
Dixon, Michael J., Lahue, Robert S.
Trinucleotide repeat (TNR) instability is of interest because of its central role in human diseases such as Huntington’s and its unique genetic features. One distinctive characteristic of TNR...
Valdez, Benigno C., Henning, Dale, So, Rolando B., Dixon, Jill, Dixon, Michael J.
Treacher Collins syndrome (TCS) is an autosomal dominant disorder characterized by an abnormality of craniofacial development that arises during early embryogenesis. TCS is caused by mutations in the...
Bhattacharyya, Saumitri, Rolfsmeier, Michael L, Dixon, Michael J, Wagoner, Kara, Lahue, Robert S
Trinucleotide repeats (TNRs) undergo frequent mutations in families affected by TNR diseases and in model organisms. Much of the instability is conferred in cis by the sequence and length of the...
Dixon, Jill, Jones, Natalie C., Sandell, Lisa L., Jayasinghe, Sachintha M., Crane, Jennifer, Rey, Jean-Philippe, ...
Neural crest cells are a migratory cell population that give rise to the majority of the cartilage, bone, connective tissue, and sensory ganglia in the head. Abnormalities in the formation,...
The cell adhesion molecule nectin-1 is critical for normal enamel formation in mice
Barron, Martin J., Brookes, Steven J., Draper, Clare E., Garrod, David, Kirkham, Jennifer, Shore, Roger C., ...
Nectin-1 is a member of a sub-family of immunoglobulin-like adhesion molecules and a component of adherens junctions. In the current study, we have shown that mice lacking nectin-1 exhibit defective...
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia
Barron, Martin J, McDonnell, Sinead T, MacKie, Iain, Dixon, Michael J
The hereditary dentine disorders, dentinogenesis imperfecta (DGI) and dentine dysplasia (DD), comprise a group of autosomal dominant genetic conditions characterised by abnormal dentine structure...
Richardson, Rebecca J., Dixon, Jill, Jiang, Rulang, Dixon, Michael J.
In mammals, adhesion and fusion of the palatal shelves are essential mechanisms during the development of the secondary palate; failure of these processes leads to the congenital anomaly, cleft...
Little, Hayley J., Rorick, Nicholas K., Su, Ling-I, Baldock, Clair, Malhotra, Saimon, Jowitt, Tom, ...
Cleft lip and cleft palate (CLP) are common disorders that occur either as part of a syndrome, where structures other than the lip and palate are affected, or in the absence of other anomalies. Van...