A Marfan syndrome gene expression phenotype in cultured skin fibroblasts (2007)
Yao, Zizhen, Jaeger, Jochen C, Ruzzo, Walter L, Morale, Cecile Z, Emond, Mary, Francke, Uta, ...
Abstract Background Marfan syndrome (MFS) is a heritable connective tissue disorder caused by mutations in the fibrillin-1 gene. This syndrome constitutes a significant identifiable subtype of aortic...
Jordan, ChaRandle, Li, Hong Hua, Kwan, Helen C, Francke, Uta
Abstract Background MeCP2, methyl-CpG-binding protein 2, binds to methylated cytosines at CpG dinucleotides, as well as to unmethylated DNA, and affects chromatin condensation. MECP2 mutations in...
Schüle, Birgitt, Albalwi, Mohammed, Northrop, Emma, Francis, David I, Rowell, Margaret, Slater, Howard R, ...
Abstract Background Prader-Willi syndrome (MIM #176270; PWS) is caused by lack of the paternally-derived copies, or their expression, of multiple genes in a 4 Mb region on chromosome 15q11.2. Known...
Gartler, Stanley M, Varadarajan, Kartik R, Luo, Ping, Canfield, Theresa K, Traynor, Jeff, Francke, Uta, ...
Abstract Background In mammals, there is evidence suggesting that methyl-CpG binding proteins may play a significant role in histone modification through their association with modification complexes...
Traynor, Jeff, Agarwal, Priyanka, Lazzeroni, Laura, Francke, Uta
Abstract Background Females with the neurological disorder Rett syndrome are heterozygous for mutations in X-linked MECP2 that encodes methyl-CpG binding protein 2 (MeCP2) thought to act as a...
Multi-exon deletions of the FBN1 gene in Marfan syndrome (2001)
Liu, Wanguo, Schrijver, Iris, Brenn, Thomas, Furthmayr, Heinz, Francke, Uta
Abstract Background Mutations in the fibrillin -1 gene (FBN1) cause Marfan syndrome (MFS), an autosomal dominant multi-system connective tissue disorder. The 200 different mutations reported in the...
Marfan Database (third edition): new mutations and new routines for the software (1997)
Lesley Ades, Cheryl Black, Maureen Boxer, Katherine J. Holman, Anne Paepe, ...
The Marfan database is a software that contains routines for the analysis of mutations identified in the FBN1 gene that encodes fibrillin-1. Mutations in this gene are associated not only with Marfan...
Mapping of human and murine genes for latent TGF-β binding protein-2 (LTBP2) (1995)
Yin, W., Li, X., Pérez-Jurado, L., Bonadio, Jeffrey, Francke, Uta
A novel gene, isolated because of structural similarities to fibrillin, was called LTBP2 when its 4.6-kb transcript was found to encode a protein sequence related to the latent TGF-β binding protein...
Fibrillin genes map to regions of conserved mouse/human syntenyon mouse chromosomes 2 and 18 (1993)
Li, Xu, Pereira, Lygia, Zhang, Hui, Sanguineti, Chiara, Ramirez, Francesco, Bonadio, Jeffrey, ...
Fibrillin proteins are major structural components of the 10-nm microfibrils found in elastic and nonelastic connective tissues. Previous studies have mapped the human genes for two fibrillins to...
Lomax, Margaret I., Hsieh, Chih-Lin, Darras, Basil T., Francke, Uta
Subunit Vb of mammalian cytochrome c oxidase (COX; EC 1.9.3.1) is encoded by a nuclear gene and assembled with the other 12 COX subunits encoded in both mitochondrial and nuclear DNA. We have cloned...
Molecular analysis of synapsin I, a candidate gene for Rett syndrome (1987)
DeGennaro, Louis J., McCaffery, Cheryl A., Kirchgessner, Cordula U., Yang-Feng, Teresa L., Francke, Uta
The characteristics of Rett syndrome suggest that it is an X-linked neurodegenerative disorder. Laboratory investigations to date have not revealed any metabolic abnormalities in affected...
Zhou, Yu-Dong, Barnard, Mary, Tian, Hui, Li, Xu, Ring, Huijun Z., Francke, Uta, ...
Here we describe two mammalian transcription factors selectively expressed in the central nervous system. Both proteins, neuronal PAS domain protein (NPAS) 1 and NPAS2, are members of the basic...
Evolutionary relationships among Rel domains indicate functional diversification by recombination
Graef, Isabella A., Gastier, Julie M., Francke, Uta, Crabtree, Gerald R.
The recent sequencing of several complete genomes has made it possible to track the evolution of large gene families by their genomic structure. Following the large-scale association of exons...
Multi-exon deletions of the FBN1 gene in Marfan syndrome
Liu, Wanguo, Schrijver, Iris, Brenn, Thomas, Furthmayr, Heinz, Francke, Uta
Hwang, Byung Joon, Toering, Stephanie, Francke, Uta, Chu, Gilbert
A subset of xeroderma pigmentosum (XP) group E cells lack a factor that binds to DNA damaged by UV radiation. This factor can be purified to homogeneity as p125, a 125-kDa polypeptide. However, when...
Cattanach's Translocation: Cytological Characterization by Quinacrine Mustard Staining
Metaphase chromosomes of mice carrying Cattanach's translocation, which is the deletion of material from a medium-sized autosome and its insertion into an X chromosome, were stained with quinacrine...
Lerner, Richard A., Jensen, Fred, Kennel, Stephen J., Dixon, Frank J., Roches, Ginger Des, Francke, Uta
Two continuous-suspension lymphocyte lines were isolated from the spleen and fibrosarcoma of a New Zealand Black female mouse. A C-type virus with a density of 1.16 g × cm-3, 70S RNA, and...
Lalley, Peter A., Francke, Uta, Minna, John D.
It is possible to generate interspecific somatic cell hybrids that preferentially segregate mouse chromosomes, thus making possible mapping of mouse genes. Therefore, comparison of the linkage...
Francke, Uta, Taggart, R. Thomas
In the search for homologous chromosome regions in man and mouse, the locus for cytoplasmic superoxide dismutase (SOD-1; superoxide:superoxide oxidoreductase, EC 1.15.1.1) is of particular interest....
Gartler, Stanley M, Varadarajan, Kartik R, Luo, Ping, Canfield, Theresa K, Traynor, Jeff, Francke, Uta, ...
Schüle, Birgitt, Albalwi, Mohammed, Northrop, Emma, Francis, David I, Rowell, Margaret, Slater, Howard R, ...
Peoples, Risa, Franke, Yvonne, Wang, Yu-Ker, Pérez-Jurado, Luis, Paperna, Tamar, Cisco, Michael, ...
Williams-Beuren syndrome (WBS) is a developmental disorder caused by haploinsufficiency for genes in a 2-cM region of chromosome band 7q11.23. With the exception of vascular stenoses due to deletion...
Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG Hotspots
Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., ...
Rett syndrome (RTT) is a neurodevelopmental disorder characterized by loss of acquired skills after a period of normal development in infant girls. The responsible gene, encoding methyl-CpG binding...
De los Santos, Tala, Schweizer, Johannes, Rees, Christian A., Francke, Uta
Prader-Willi syndrome is a complex neurodevelopmental disorder caused by the inactivation or deletion of imprinted, paternally expressed genes in chromosome band 15q11.2. We report the identification...
Schüle, Birgitt, Oviedo, Angelica, Johnston, Kathreen, Pai, Shashidhar, Francke, Uta
The rare, autosomal recessive Roberts syndrome (RBS) is characterized by tetraphocomelia, profound growth deficiency of prenatal onset, craniofacial anomalies, microcephaly, and mental deficiency. SC...
Eicher, Eva M., Nesbitt, Muriel N., Francke, Uta
The autosome in Searle's X-autosome translocation has been shown to be chromosome 16. The breakpoint in chromosome 16 is slightly proximal to the middle and in the X is slightly distal to the...
Recombination of 4p16 DNA markers in an unusual family with Huntington disease
Pritchard, Catrin, Zhu, Ning, Zuo, Jian, Bull, Laura, Pericak-Vance, Margaret A., Vance, Jeffery M., ...
The Huntington disease (HD) mutation has been localized to human chromosome 4p16, in a 6-Mb region between the D4S10 locus and the 4p telomere. In a report by Robbins et al., a family was identified...
Francke, Uta, Harper, John F., Darras, Basil T., Cowan, Janet M., McCabe, Edward R. B., Kohlschütter, Alfried, ...
Glycerol kinase deficiency (GKD) is an X-linked recessive trait that occurs in association with congenital adrenal hypoplasia (AH) and developmental delay with or without congenital dystrophic...
Francke, Uta, Ochs, Hans D., De Martinville, Bérengère, Giacalone, Joseph, Lindgren, Valerie, Distèche, Christine, ...
We are reporting a male patient who suffered from chronic granulomatous disease associated with cytochrome b−245 deficiency and McLeod red cell phenotype, Duchenne muscular dystrophy, and retinitis...
Zhou, Yu-Dong, Barnard, Mary, Tian, Hui, Li, Xu, Ring, Huijun Z., Francke, Uta, ...
Here we describe two mammalian transcription factors selectively expressed in the central nervous system. Both proteins, neuronal PAS domain protein (NPAS) 1 and NPAS2, are members of the basic...
Evolutionary relationships among Rel domains indicate functional diversification by recombination
Graef, Isabella A., Gastier, Julie M., Francke, Uta, Crabtree, Gerald R.
The recent sequencing of several complete genomes has made it possible to track the evolution of large gene families by their genomic structure. Following the large-scale association of exons...
Multi-exon deletions of the FBN1 gene in Marfan syndrome
Liu, Wanguo, Schrijver, Iris, Brenn, Thomas, Furthmayr, Heinz, Francke, Uta
Hwang, Byung Joon, Toering, Stephanie, Francke, Uta, Chu, Gilbert
A subset of xeroderma pigmentosum (XP) group E cells lack a factor that binds to DNA damaged by UV radiation. This factor can be purified to homogeneity as p125, a 125-kDa polypeptide. However, when...
Schrijver, Iris, Liu, Wanguo, Odom, Raanan, Brenn, Thomas, Oefner, Peter, Furthmayr, Heinz, ...
Marfan syndrome (MFS) and other type 1 fibrillinopathies result from mutations in the FBN1 gene, which encodes the connective-tissue microfibrillar protein fibrillin 1. Attempts at correlating...
Evidence for the Role of PWCR1/HBII-85 C/D Box Small Nucleolar RNAs in Prader-Willi Syndrome
Gallagher, Renata C., Pils, Birgit, Albalwi, Mohammed, Francke, Uta
Prior work has suggested that loss of expression of one or more of the many C/D box small nucleolar RNAs (snoRNAs) encoded within the complex, paternally expressed SNRPN (small nuclear ribonuclear...
Cattanach's Translocation: Cytological Characterization by Quinacrine Mustard Staining
Metaphase chromosomes of mice carrying Cattanach's translocation, which is the deletion of material from a medium-sized autosome and its insertion into an X chromosome, were stained with quinacrine...
Lerner, Richard A., Jensen, Fred, Kennel, Stephen J., Dixon, Frank J., Roches, Ginger Des, Francke, Uta
Two continuous-suspension lymphocyte lines were isolated from the spleen and fibrosarcoma of a New Zealand Black female mouse. A C-type virus with a density of 1.16 g × cm-3, 70S RNA, and...
Lalley, Peter A., Francke, Uta, Minna, John D.
It is possible to generate interspecific somatic cell hybrids that preferentially segregate mouse chromosomes, thus making possible mapping of mouse genes. Therefore, comparison of the linkage...
Francke, Uta, Taggart, R. Thomas
In the search for homologous chromosome regions in man and mouse, the locus for cytoplasmic superoxide dismutase (SOD-1; superoxide:superoxide oxidoreductase, EC 1.15.1.1) is of particular interest....
Gartler, Stanley M, Varadarajan, Kartik R, Luo, Ping, Canfield, Theresa K, Traynor, Jeff, Francke, Uta, ...
Schüle, Birgitt, Albalwi, Mohammed, Northrop, Emma, Francis, David I, Rowell, Margaret, Slater, Howard R, ...
Eicher, Eva M., Nesbitt, Muriel N., Francke, Uta
The autosome in Searle's X-autosome translocation has been shown to be chromosome 16. The breakpoint in chromosome 16 is slightly proximal to the middle and in the X is slightly distal to the...
Schüle, Birgitt, Oviedo, Angelica, Johnston, Kathreen, Pai, Shashidhar, Francke, Uta
The rare, autosomal recessive Roberts syndrome (RBS) is characterized by tetraphocomelia, profound growth deficiency of prenatal onset, craniofacial anomalies, microcephaly, and mental deficiency. SC...
Peoples, Risa, Franke, Yvonne, Wang, Yu-Ker, Pérez-Jurado, Luis, Paperna, Tamar, Cisco, Michael, ...
Williams-Beuren syndrome (WBS) is a developmental disorder caused by haploinsufficiency for genes in a 2-cM region of chromosome band 7q11.23. With the exception of vascular stenoses due to deletion...
Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG Hotspots
Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., ...
Rett syndrome (RTT) is a neurodevelopmental disorder characterized by loss of acquired skills after a period of normal development in infant girls. The responsible gene, encoding methyl-CpG binding...
De los Santos, Tala, Schweizer, Johannes, Rees, Christian A., Francke, Uta
Prader-Willi syndrome is a complex neurodevelopmental disorder caused by the inactivation or deletion of imprinted, paternally expressed genes in chromosome band 15q11.2. We report the identification...
Recombination of 4p16 DNA markers in an unusual family with Huntington disease
Pritchard, Catrin, Zhu, Ning, Zuo, Jian, Bull, Laura, Pericak-Vance, Margaret A., Vance, Jeffery M., ...
The Huntington disease (HD) mutation has been localized to human chromosome 4p16, in a 6-Mb region between the D4S10 locus and the 4p telomere. In a report by Robbins et al., a family was identified...
Francke, Uta, Harper, John F., Darras, Basil T., Cowan, Janet M., McCabe, Edward R. B., Kohlschütter, Alfried, ...
Glycerol kinase deficiency (GKD) is an X-linked recessive trait that occurs in association with congenital adrenal hypoplasia (AH) and developmental delay with or without congenital dystrophic...
Francke, Uta, Ochs, Hans D., De Martinville, Bérengère, Giacalone, Joseph, Lindgren, Valerie, Distèche, Christine, ...
We are reporting a male patient who suffered from chronic granulomatous disease associated with cytochrome b−245 deficiency and McLeod red cell phenotype, Duchenne muscular dystrophy, and retinitis...
Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets
Jordan, ChaRandle, Li, Hong Hua, Kwan, Helen C, Francke, Uta
A Marfan syndrome gene expression phenotype in cultured skin fibroblasts
Yao, Zizhen, Jaeger, Jochen C, Ruzzo, Walter L, Morale, Cecile Z, Emond, Mary, Francke, Uta, ...
SnoRNA Snord116 (Pwcr1/MBII-85) Deletion Causes Growth Deficiency and Hyperphagia in Mice
Ding, Feng, Li, Hong Hua, Zhang, Shengwen, Solomon, Nicola M., Camper, Sally A., Cohen, Pinchas, ...
Prader-Willi syndrome (PWS) is the leading genetic cause of obesity. After initial severe hypotonia, PWS children become hyperphagic and morbidly obese, if intake is not restricted. Short stature...
Schrott, Helmut G., Sakaguchi, Sumiko, Francke, Uta, Luzzatti, Luigi, Fialkow, Philip J.
The karyotype of a child with severe mental retardation, microcephaly, minor facial anomalies, and urinary tract outflow obstruction was found to be 46,XY,13q+mat. Trypsin-Giemsa banding studies...