Citations with the tag: MUTATION (Biology)
Results 251 - 300
- Staphylococcus aureus menD and hemB Mutants Are as Infective as the Parent Strains, but the Menadione Biosynthetic Mutant Persists within the Kidney.
Bates, Donna M.; von Eiff, Christof; McNamara, Peter J.; Peters, Georg; Yeaman, Michael R.; Bayer, Arnold S.; Proctor, Richard A. // Journal of Infectious Diseases; 5/15/2003, Vol. 187 Issue 10, p1654
Discusses the generation of small colony variants (SCV) of Staphylococcus aureus via mutations in menD or hemB. Menadione and hemin auxotrophs yielded; Ability of SCV to colonize multiple tissues in vivo; MenD mutation's provision of the organism with a survival advantage during antimicrobial...
- Findings offer insights into mutational processes that lead to cancer development.
Bates, Donna M.; von Eiff, Christof; McNamara, Peter J.; Peters, Georg; Yeaman, Michael R.; Bayer, Arnold S.; Proctor, Richard A. // Hem/Onc Today; 10/25/2013, Vol. 14 Issue 20, p31
The article presents the analysis of several million mutations of cancer as of October 2013, which showed that two or more mutational signatures are present in each disease, highlighting the diversity of processes that cause cancer.
- Certain F8 mutations increased inhibitor formation in hemophilia A.
Bates, Donna M.; von Eiff, Christof; McNamara, Peter J.; Peters, Georg; Yeaman, Michael R.; Bayer, Arnold S.; Proctor, Richard A. // Hem/Onc Today; 10/25/2013, Vol. 14 Issue 20, p1
The article presents the results of a multicenter INSIGHT study as of October 2013, which showed that the 19 specific mutations in the Factor VIII gene were linked to the inhibitor development in patients with nonsevere hemophilia A.
- Targeted inhibition of mutant IDH2 in leukemia cells induces cellular differentiation.
Mead, Adam // Current Medical Literature: Leukemia & Lymphoma; 2013, Vol. 21 Issue 3, p92
The article discusses research which identified a small molecule allosteric inhibitor of recurrent isocitrate dehydrogenase 2 (IDH2) mutation R140Q, named AGI-780, which induced a decrease in cellular 2-hydroxyglutarate (2-HG) in the treatment of leukemia cells.
- Altering the pathway of immunoglobulin hypermutation by inhibiting uracil-DNA glycosylase.
Di Noia, Javier; Neuberger, Michael S. // Nature; 9/5/2002, Vol. 419 Issue 6902, p43
Discusses the alteration of the pathway of immunoglobulin hypermutation by inhibiting the uracil-DNA glycosylase. Activity of the uracil-DNA glycosylase in the DT40 cells; Inhibition of the uracil-DNA glycosylase gene in the uracil-DNA glycosylase inhibitor (Ugi) transfectants of the DT40...
- Mechanism of magnesium activation of calcium-activated potassium channels.
Jingyi Shi; Krishnamoorthy, Gayathri; Yanwu Yang; Lei Hu; Chaturvedi, Neha; Harilal, Dina; Jun Qin; Jianmin Cui // Nature; 8/22/2002, Vol. 418 Issue 6900, p876
Presents the molecular investigation of a magnesium dependent activation mechanism. Use of combined site-directed mutagenesis and structural analysis; Mechanism for the coupling between magnesium binding and channel opening; Effects of mutations on magnesium sensitivity; Site-directed mutations...
- Shorn (shn): A new mutation causing hypotrichosis in the Norway rat.
Moemeka, A.N.; Hildebrandt, A.L.; Radaskiewicz, P.; King, T.R. // Journal of Heredity; May/Jun98, Vol. 89 Issue 3, p257
Presents the identification of an autosomal recessive mutation in the Norway rat which can cause total loss of normal hair. Identification of the mutation; Origin and history of hypotrichotic rats; Genotypic characterization of the mutation; Methodology used to identify this mutation in the...
- Patients with different or identical genotypes of the WT1 gene present different phenotypes.
Yang, Yonghui; Zhao, Feng; Huang, Jun; Nie, Xiaojing; Yu, Zihua // European Journal of Pediatrics; Dec2013, Vol. 172 Issue 12, p1707
Response from the authors of the article "A child with isolated nephrotic syndrome and WT1 mutation presenting as a 46, XY phenotypic male" in a 2013 issue is presented.
- Different clinical presentations of WT1 gene mutations.
Aydin, Mustafa; Hakan, Nilay; Zenciroglu, Aysegul; Aydog, Ozlem; Okumus, Nurullah // European Journal of Pediatrics; Dec2013, Vol. 172 Issue 12, p1705
A letter to the editor in response to the article "A child with isolated nephrotic syndrome and WT1 mutation presenting as a 46, XY phenotypic male" by Y. Yang and colleagues in a 2013 issue is presented.
- Erratum to: A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma.
Fu-Xi Wang; Li-Jia Yang; Ming Li; Shu-Lin Zhang; Xiao-Hong Zhu // Archives of Dermatological Research; Apr2010, Vol. 302 Issue 3, p239
A correction to the article "A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma," published in a 2010 issue is presented.
- Identification of two novel DSRAD mutations in two Chinese families with dyschromatosis symmetrica hereditaria.
Qingqiang Xu; Shengxiang Xiao; Jia Huo; Yingying Dong; Jianwen Ren; Xiaopeng Wang; Junhong Ma; Jingang An; Yan Liu // Archives of Dermatological Research; Apr2010, Vol. 302 Issue 3, p235
A letter to the editor on identification of two novel DSRAD mutations in two Chinese families with dyschromatosis symmetrica hereditaria is presented.
- Bad sex gene ruins fruit flies' love lives.
Gordon, Meg // New Scientist; 02/15/97, Vol. 153 Issue 2069, p21
Identifies the mutated gene called dissatisfaction among fruit flies. Sterility of females with the gene; Oddity in the sexual behavior of males and females with dissatisfaction gene; Linkage of the mutant flies' behavior with neural development; Abnormality in neural and motor connections in...
- Vaccines and Genetic Mutation.
Buttram, Harold E.; Kreider, Susan; Yurko, Alan R. // Townsend Letter for Doctors & Patients; Oct2003, Issue 243, p98
Investigates the link of vaccines to genetic mutation. Interactions of vaccines with the human immunology and genetics; Discussion of the process of cloning; Examination of substances that carries genetic code within the cell of the body.
- A new kind of glitch.
Richardson, Sarah // Discover; Dec95, Vol. 16 Issue 12, p36
Looks at diseases that cause mutation. Description of mutation; Information on mutation changes in genes; Examination of body cells; Development of cancer by wrong gene; Details of methylation.
- Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome.
Whitehead, Jonathan P.; Soos, Maria A.; Jackson, R.; Tasic, V.; Kocova, M.; O'Rahilly, S. // Diabetes; Aug1998, Vol. 47 Issue 8, p1362
Describes two novel missense insulin receptor mutations found in a patient with Donohue syndrome. Exhibition of distinct functional defects that act in a synergistic manner, resulting in extreme form of insulin resistance; Effects of the mutations on insulin receptor function; Decreased insulin...
- No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy.
Niemeyer, María I.; Cid, L. Pablo; Sepúlveda, Francisco V.; Blanz, Judith; Auberson, Muriel; Jentsch, Thomas J. // Nature Genetics; Jan2010, Vol. 42 Issue 1, p3
A letter to the editor is presented in response to an article on the mutations of CLCN2 by A. KleefuÃŸ-Lie and colleagues in the 2003 issue.
- Mutations in the human Delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.
Bulman, Michael P.; Kusumi, Kenro; Frayling, Timothy M.; McKeown, Carole; Garrett, Christine; Lander, Eric S.; Krumlauf, Robb; Hattersley, Andrew T.; Ellard, Sian; Turnpenny, Peter D. // Nature Genetics; Apr2000, Vol. 24 Issue 4, p438
Spondylocostal dysostosis (SD, MIM 277300) is a group of vertebral malsegmentation syndromes with reduced stature resulting from axial skeletal defects. SD is characterized by multiple hemivertebrae, rib fusions and deletions with a non-progressive kyphoscoliosis. Cases may be sporadic or...
- Corrigendum: A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.
Shore, Eileen M; Xu, Meiqi; Feldman, George J; Fenstermacher, David A; Brown, Matthew A; Kaplan, Frederick S // Nature Genetics; Feb2007, Vol. 39 Issue 2, p276
A correction to the article "A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva," that was published in the December 3, 2006 issue is presented.
- Corrigendum: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
Tartaglia, Marco; Pennacchio, Len A; Zhao, Chen; Yadav, Kamlesh K; Fodale, Valentina; Sarkozy, Anna; Pandit, Bhaswati; Oishi, Kimihiko; Martinelli, Simone; Schackwitz, Wendy; Ustaszewska, Anna; Martin, Joel; Bristow, James; Carta, Claudio; Lepri, Francesca; Neri, Cinzia; Vasta, Isabella; Gibson, Kate; Curry, Cynthia J; Siguero, Juan Pedro López // Nature Genetics; Feb2007, Vol. 39 Issue 2, p276
A correction to the article "Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome," that was published in the December 13, 2006 issue is presented.
- Five Novel Mutations in Tyrosinase Gene of Japanese and Indian Patients with Oculocutaneous Albinism Type I (OCA1).
Miyamura, Yoshinori; Verma, Ishwar C.; Saxena, Renu; Ho-Shi, Michiko; Murase, Ayumi; Nakamura, Eriko; Kono, Michihiro; Suzuki, Tamio; Yasue, Satoshi; Shibata, Shin-Ichi; Sakakibara, Akihiro; Tomita, Yasushi // Journal of Investigative Dermatology; Aug2005, Vol. 125 Issue 2, p397
Presents a letter to the editor regarding five novel mutations in tyrosine gene of Japanese and Indian patients with oculocutaneous albinism type I.
- Glutathione-linked enzymes in benign and malignant oesophageal tissue.
Levy, R D; Oosthuizen, M M J; Degiannis, E; Greyling, D; Hatzitheofilou, C // British Journal of Cancer; 4/15/99, Vol. 80 Issue 1/2, p32
Oxyradicals are involved in multiple mutational events and can contribute to the conversion of healthy cells to cancer cells. Glutathione (GSH) and the GSH-replenishing enzymes keep the antioxidant status of normal cells at a level where they can avert oxyradical derived mutations. The aim of...
- Exclusion of the genes CDKN2 and PTEN as causative gene defects in Liâ€“Fraumeni syndrome.
Burt, E C; McGown, G; Thorncroft, M; James, L A; Birch, J M; Varley, J M // British Journal of Cancer; 4/15/99, Vol. 80 Issue 1/2, p9
We have analysed Li-Fraumeni syndrome families, previously shown to be negative for mutations inTP53, for mutations to the tumour suppressor genesPTEN andCDKN2. These genes function in cell cycle progression or are mutated in a variety of tumours. We have detected no mutations in the family...
- Mutations in the gene encoding gap junction protein Î²?3 associated with autosomal dominant hearing impairment.
Xia, Jia-hi // Nature Genetics; Feb99, Vol. 21 Issue 2, p241
Presents an erratum for the article 'Mutations in the gene encoding gap junction Î²-3 associated with autosomal dominant hearing impairment,' published in the 1998 issue of 'Nature Genetics.'
- Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae.
Shimodaira, Hideki // Nature Genetics; Feb99, Vol. 21 Issue 2, p241
Presents an erratum for the article 'Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae,' published in a 1998 issue of 'Nature Genetics.'
- Heterogeneous mutation processes in human microsatellite DNA sequences.
Ellegren, Hans // Nature Genetics; Apr2000, Vol. 24 Issue 4, p400
Although microsatellite polymorphisms are one of the most commonly used tools in genetic analyses, it remains to be understood how microsatellite DNA has evolved as a ubiquitous and highly abundant class of repetitive sequences in eukaryotic genomes. On the basis of analyses of spontaneous human...
- The direction of microsatellite mutations is dependent upon allele length.
Xu, Xin; Peng, Mei; Fang, Zhian; Xu, Xiping // Nature Genetics; Apr2000, Vol. 24 Issue 4, p396
Microsatellites, comprising tandemly repeated short nucleotide sequences, are ubiquitous in eukaryotic genomes. Mutations within microsatellites are frequent, altering their overall length by insertion or deletion of a small number of repeat units, with a rate as high as 10-3 in humans. Despite...
- Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation.
Gibbons, Richard J.; McDowell, Tarra L.; Raman, Sundhya; O'Rourke, Delia M.; Garrick, David; Ayyub, Helena; Higgs, Douglas R. // Nature Genetics; Apr2000, Vol. 24 Issue 4, p368
A goal of molecular genetics is to understand the relationship between basic nuclear processes, epigenetic changes and the numerous proteins that orchestrate these effects. One such protein, ATRX, contains a highly conserved plant homeodomain (PHD)-like domain, present in many...
- Robustness against mutations in genetic networks of yeast.
Wagner, Andreas // Nature Genetics; Apr2000, Vol. 24 Issue 4, p355
There are two principal mechanisms that are responsible for the ability of an organism's physiological and developmental processes to compensate for mutations. In the first, genes have overlapping functions, and loss-of-function mutations in one gene will have little phenotypic effect if there...
- Mss51p promotes mitochondrial Cox1p synthesis and interacts with newly synthesized Cox1p.
Xochitl Perez-Martinez; Sarah A. Broadley; Thomas D. Fox // EMBO Journal; 11/3/2003, Vol. 22 Issue 21, p5951
The post-transcriptional role of Mss51p in mitochondrial gene expression is of great interest since MSS51 mutations suppress the respiratory defect caused by shy1 mutations. SHY1 is a Saccharomyces cerevisiae homolog of human SURF1, which when mutated causes a cytochrome oxidase assembly defect....
- Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma.
Liu, Ling; Dilworth, David; Gao, Luzhang; Monzon, Jose; Summers, Ann; Lassam, Norman; Hogg, David // Nature Genetics; Jan1999, Vol. 21 Issue 1, p128
Approximately 8-12% of melanoma is inherited in an autosomal dominant fashion with variable penetrance. A chromosome 9p21 locus has been linked to this disease in 50-80% of affected families. CDKN2A (also known as P16, INK4, p16INK4A and MTS1) is allelic to this locus and encodes a cdk4/cdk6...
- Corrigendum: Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
Najm, Juliane; Horn, Denise; Wimplinger, Isabella; Golden, Jeffrey A; Chizhikov, Victor V; Sudi, Jyotsna; Christian, Susan L; Ullmann, Reinhard; Kuechler, Alma; Haas, Carola A; Flubacher, Armin; Charnas, Lawrence R; Uyanik, Gökhan; Frank, Ulrich; Klopocki, Eva; Dobyns, William B; Kutsche, Kerstin // Nature Genetics; Nov2008, Vol. 40 Issue 11, p1384
A correction to the article "Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum" is presented.
- Reply to â€œRapidly evolving human promoter regionsâ€.
Haygood, Ralph; Fedrigo, Olivier; Wray, Gregory A // Nature Genetics; Nov2008, Vol. 40 Issue 11, p1263
A reply by Ralph Haygood and colleagues to a letter to the editor about their article on mutation rate between promoter regions and the intronic sequences is presented.
- Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.
Jakkula, Eveliina; M&äkitie, Outi; Czarny-Ratajczak, Malwina; Jackson, Gail C.; Damignani, Rita; Susic, Miki; Briggs, Michael D.; Cole, William G.; Ala-Kokko, Leena // European Journal of Human Genetics; Oct2005, Vol. 13 Issue 10, p1166
Presents a corrected reprint of the article "Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations," by Eveliina Jakkula et al, published in the 2005 issue of the "European Journal of Human Genetics".
- Haplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer families.
Barkardottir, Rosa B; Sarantaus, Laura; Arason, Adalgeir; Vehmanen, Paula; Bendahl, Pär-Ola; Kainu, Tommi; Syrjäkoski, Kirsi; Krahe, Ralf; Huusko, Pia; Pyrhönen, Seppo; Holli, Kaija; Kallioniemi, Olli-P; Egilsson, Valgardur; Kere, Juha; Nevanlinna, Heli // European Journal of Human Genetics; Oct2001, Vol. 9 Issue 10, p773
The 999del5 mutation is the single, strong BRCA2 founder mutation in Iceland and the most common BRCAÂ½ founder mutation in Finland. To evaluate the origin and time since spreading of the 999del5 mutation in Iceland and in Finland, we constructed haplotypes with polymorphic markers within and...
- Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis.
Laiho, Elina; Niemi, Kirsti-Maria; Ignatius, Jaakko; Kere, Juha; Palotie, Aarno; Saarialho-Kere, Ulpu // European Journal of Human Genetics; Sep99, Vol. 7 Issue 6, p625
Autosomal recessive congenital ichthyosis (ARCI) is a group of inherited disorders of cornification in which progress has recently been made in the identification of pathogenic mechanisms causing the disease. Transglutaminase 1 (TGM1) has been found as a defective gene in a large fraction of...
- Molecular Analysis of Cystinosis: Probable Irish Origin of the Most Common French Canadian Mutation.
McGowan-Jordan, Jean; Stoddard, Karen; Podolsky, Luba; Orrbine, Elaine; McLaine, Peter; Town, Margaret; Goodyer, Paul; MacKenzie, Alex; Heick, Hans // European Journal of Human Genetics; Sep99, Vol. 7 Issue 6, p671
Infantile nephropathic cystinosis, an autosomal recessive disease characterized by a lysosomal accumulation of cystine, presents as failure to thrive, rickets and proximal renal tubular acidosis. The cystinosis gene, CTNS, which maps to chromosome 17p13, encodes a predicted 55kDa protein with...
- Allelic heterogeneity of alkaptonuria in Central Europe.
Müller, C R; Fregin, A; Srsen, S; Srsnova, K; Halliger-Keller, B; Felbor, U; Seemanova, E; Kress, W // European Journal of Human Genetics; Sep99, Vol. 7 Issue 6, p645
Defects of the homogentisate 1,2 dioxygenase (HGO; E.C. No. 220.127.116.11) have been identified as the molecular cause of alkaptonuria in humans (AKU) and the aku mouse. Here, we report on the genetic basis of 30 AKU patients from Central Europe. In addition to five mutations described previously,...
- Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene.
Larsen, Lars Allan; Fosdal, Inger; Andersen, Paal Skytt; Kanters, Jørgen K; Vuust, Jens; Wettrell, Göran; Christiansen, Michael // European Journal of Human Genetics; Sep99, Vol. 7 Issue 6, p724
We describe a Swedish family with the proband and his brother suffering from severe RomanoWard syndome (RWS) associated with compound heterozygosity for two mutations in the KVLQT1 (also known as KCNQ1 and KCNA9) gene (R518X and A52ST). The mutations were found to segregate as heterozygotes in...
- Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).
Hästbacka, Johanna; Kerrebrock, Anne; Mokkala, Kati; Clines, Gregory; Lovett, Michael; Kaitila, Ilkka; de la Chapelle, Albert; Lander, Eric S // European Journal of Human Genetics; Sep99, Vol. 7 Issue 6, p664
Diastrophic dysplasia (DTD) is especially prevalent in Finland and the existence of a founder mutation has been previously inferred from the fact that 95% of Finnish DTD chromosomes have a rare ancestral haplotype found in only 4% of Finnish control chromosomes. Here we report the identification...
- Identification of a nonsense mutation in the PAX9 gene in molar oligodontia.
Nieminen, Pekka; Arte, Sirpa; Tanner, Dennis; Paulin, Lars; Alaluusua, Satu; Thesleff, Irma; Pirinen, Sinikka // European Journal of Human Genetics; Oct2001, Vol. 9 Issue 10, p743
Development of dentition is controlled by numerous genes, as has been shown by experimental animal studies and mutations that have been identified by genetic studies in man. Here we report a nonsense mutation in the PAX9 gene that is associated with molar tooth agenesis in a Finnish family. The...
- An mtDNA mutation, 14453Gâ†’A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome.
Ravn, Kirstine; Wibrand, Flemming; Hansen, Flemming Juul; Horn, Nina; Rosenberg, Thomas; Schwartz, Marianne // European Journal of Human Genetics; Oct2001, Vol. 9 Issue 10, p805
We report a novel point mutation in the gene for the mitochondrially encoded ND6 subunit of the NADH:ubiquinone oxidoreductase (complex I of the respiratory chain) in a patient with MELAS syndrome. The mutation causes a change from alanine to valine in the most conserved region of the ND6...
- The western Swedish BRCA1 founder mutation 3171ins5; a 3.7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation.
Bergman, Annika; Einbeigi, Zakaria; Olofsson, Ulrica; Taib, Ziad; Wallgren, Arne; Karlsson, Per; Wahlström, Jan; Martinsson, Tommy; Nordling, Margareta // European Journal of Human Genetics; Oct2001, Vol. 9 Issue 10, p787
The most recurrent BRCA1/BRCA2 mutation in Sweden is the BRCA1 mutation 3171ins5. In the western part of Sweden this mutation accounts for as much as 77% of identified mutations in these two genes. Our aim was to analyse in detail the haplotype and founder effects of the 3171ins5 and furthermore...
- Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q.
Mackay, Donna S.; Andley, Usha P.; Shiels, Alan // European Journal of Human Genetics; Oct2003, Vol. 11 Issue 10, p784
Hereditary cataract is a clinically and genetically heterogeneous lens disease that accounts for a significant proportion of visual impairment and blindness in childhood. The alphaA-crystallin (CRYAA) gene (CRYAA) encodes a member of the small-heat-shock protein (sHSP) family of molecular...
- Molecular characterization of homozygous variegate porphyria.
Roberts, Andrew G.; Puy, Hervé; Dailey, Tamara A.; Morgan, Rhian R.; Whatley, Sharon D.; Dailey, Harry A.; Martasek, Pavel; Nordmann, Yves; Deybach, Jean‐Charles; Elder, George H. // Human Molecular Genetics; Nov98 Supplement, Vol. 7 Issue 12, p1921
Presents a molecular characterization of homozygous variegate porphyria (VP). Linking of the porphyria to partial deficiency of protoporphyrinogen oxidase activity of mutant PPOX gene; Identification of mutations on alleles of patients with homozygous VP; Absence of relation between genotype...
- Novel mutation processes in the evolution of a haploid minisatellite, MSY1: array homogenization without homogenization.
Bouzekri, Nourdine; Taylor, Paul G.; Hammer, Michael F.; Jobling, Mark A. // Human Molecular Genetics; Apr98, Vol. 7 Issue 4, p655
Studies novel mutation processes in the evolution of a haploid minisatellite, MSY1. Identification of variant repeat types; African-specific class of Y chromosomes; Additional base substitution.
- Mutation at the anophthalmic white locus in Syrian hamsters: haploinsufficiency in the Mitf gene mimics human Waardenburg syndrome type 2.
Hodgkinson, Colin A.; Nakayama, Atsuo; Li, Hua; Swenson, Lori‐Beth; Opdecamp, Karin; AsherJr, James H.; Arnheiter, Heinz; Glaser, Tom // Human Molecular Genetics; Apr98, Vol. 7 Issue 4, p703
Studies mutation at the anopththalmic white locus in Syrian hamsters. Haploinsufficiency in the Mitff gene and human Waardenburg syndrome type 2; Description of Waardenburg syndrome in humans.
- Identification of four new mutations in the short-chain acyl-CoA dehydrogenase ( SCAD) gene in two patients: one of the variant alleles, 511Câ†’T, is present at an unexpectedly high frequency in the general population, as was the case ...
Gregersen, Niels; Winter, Vibeke S.; Corydon, Morten J.; Corydon, Thomas J.; Rinaldo, Piero; Ribes, Antonia; Martinez, Gemma; Bennett, Michael J.; Vianey‐Saban, Christine; Bhala, Ajay; Hale, Daniel E.; Lehnert, Willy; Kmoch, Stanislav; Roig, Manel; Riudor, Encamaclo; Eiberg, Hans; Andresen, Brage S.; Bross, Peter; Bolund, Lars A.; Kølvraa, Steen // Human Molecular Genetics; Apr98, Vol. 7 Issue 4, p619
Studies the identification of four mutations in the short-chain acyl-CoA dehydrogenase gene in two patients. Elevation of urinary excretion of ethylmalonic acid; Lack of enzyme activity after expression in COS-7 cells.
- CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.
Zhou, Guang; Chen, Yuqing; Zhou, Lei; Thirunavukkarasu, Kannan; Hecht, Jacqueline; Chitayat, David; Gelb, Bruce D.; Pirinen, Sinikka; Berry, Susan A.; Greenberg, Cheryl R.; Karsenty, Gerard; Lee, Brendan // Human Molecular Genetics; Nov99, Vol. 8 Issue 12, p2311
Analyzes the functional correlation between core binding factor-alpha1 (CBFA1) gene mutation and phenotypic variability in cleidocranial dysplasia. Causes of delayed intramembranous and endochondral ossification; Regulation of epithelial-mesenchymal interactions in odontogenesis.
- Molecular phenotype of the np 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids.
Toompuu, Marina; Tiranti, Valeria; Zeviani, Massimo; Jacobs, Howard T. // Human Molecular Genetics; Nov99, Vol. 8 Issue 12, p2275
The nucleotide pair (np) 7472 insC mitochondrial DNA mutation in the tRNA[sup Ser](UCN) gene is associated with sensorineural deafness, combined in some individuals with a wider syndrome including ataxia and myo-clonus. Previous studies in osteosarcoma cell cybrids revealed only a mild...
- Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1.
Pece-Barbara, Nadia; Cymerman, Urszula; Vera, Sonia; Marchuk, Douglas A.; Letarte, Michelle // Human Molecular Genetics; Nov99, Vol. 8 Issue 12, p2171
Analyzes the association between endoglin missense mutation and hereditary hemorrhagic telangiectasia type 1. Mode of inheritance; Clinical manifestations; Complications associated with the disease; Degradation of misfolded proteins in the endoplasmic reticulum.