Citations with the tag: MUTATION (Biology)
Results 251 - 300
- 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. 22.214.171.124) 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.
- A cellular assay distinguishes normal and mutant TIGR/myocilin protein.
Zhou, Zhaohui; Vollrath, Douglas // Human Molecular Genetics; Nov99, Vol. 8 Issue 12, p2221
Examines the normal and mutant trabelar meshwork-inducible glucocorticoid response/myocilin proteins of glaucoma using cellular assay. Age of onset; Clinical manifestations of the disease; Difference in Triton solubility between mutant and normal proteins; Effect of premature termination...
- SCIENTIFIC CORRESPONDENCE.
Leegwater, P.A.J.; Boor, P.K.I.; Pronk, J.C.; van der Knaap, M.S. // Molecular Psychiatry; 2002, Vol. 7 Issue 10, p1037
Presents comments and responses to issues about the association of a missense mutation, L309M in WKL1 on chromosome 22 q[sub tel] with catatonic schizophrenia in an extended family. Involvement of the mutation in the etiology of the disorder; Role of the KIAA0027 protein in myelination and in...
- Frequent mutations of the Trp53, Hras1 and Î²-catenin (Catnb) genes in 1, 3-butandiene-induced mammary adenocarcinomas in B6C3F1 mice.
Shi-Mei Zhuang; Wiseman, Roger W.; Soderkvist, Peter // Oncogene; 8/15/2002, Vol. 21 Issue 36, p5643
Presents a study that investigated frequent mutations of the Trp53, Hras1 and&beta-catenin genes in 1,3-butadiene-induced mammary adenocarcinomas in B6C3F1 mice. Mutation analysis of the Trp53 gene; Summary of genetic alterations in 1,3-butadiene-induced mammary adenocarcinomas; Common...
- From the editors.
Shi-Mei Zhuang; Wiseman, Roger W.; Soderkvist, Peter // Nature Reviews Genetics; Jul2008, Vol. 9 Issue 7, p495
The article discusses various reports within the issue including an article on genome-wide association studies and an article on the importance of rare structural mutations in autism and schizophrenia.
- Eight New Mutants at the K2 Mdh1-n y20 Chromosomal Region in Soybean.
Chen, X. F.; Imsande, J. // Journal of Heredity; May/Jun99, Vol. 90 Issue 3, p399
Presents information on a study which identified mutations and reported inheritance studies with eight mutants at the K2 Mdh1-n y20 chromosomal region in soybean. Materials and methods; Results and discussion.
- CHEMICAL GENETICS: LIGAND-BASED DISCOVERY OF GENE FUNCTION.
Stockwell, Brent R. // Nature Reviews Genetics; Nov2000, Vol. 1 Issue 2, p116
Chemical genetics is the study of gene-product function in a cellular or organismal context using exogenous ligands. In this approach, small molecules that bind directly to proteins are used to alter protein function, enabling a kinetic analysis of the in vivo consequences of these changes....
- Novel human pathological mutations.
Stockwell, Brent R. // Human Genetics; Feb2008, Vol. 123 Issue 1, p101
The article lists several human pathological mutations including ectodermal dysplasia, X-linked anhidrotic ectodermal dysplasia and craniofrontonasal syndrome.
- The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
Urreizti, Roser; Asteggiano, Carla; Bermudez, Marta; Córdoba, Alfonso; Szlago, Mariana; Grosso, Carola; de Kremer, Raquel Dodelson; Vilarinho, Laura; D'Almeida, Vania; Martínez-Pardo, Mercedes; Peña-Quintana, Luís; Dalmau, Jaime; Bernal, Jaime; Briceño, Ignacio; Couce, María; Rodés, Marga; Vilaseca, Maria; Balcells, Susana; Grinberg, Daniel // Journal of Human Genetics; Apr2006, Vol. 51 Issue 4, p305
Classical homocystinuria is due to cystathionine Î²-synthase (CBS) deficiency. More than 130 mutations, which differ in prevalence and severity, have been described at the CBS gene. Mutation p.I278T is very prevalent, has been found in all European countries where it has been looked for with...
- Mutations in the relay loop region result in dominant-negative inhibition of myosin II function in Dictyostelium.
Tsiavaliaris, Georgios; Fujita-Becker, Setsuko; Batra, Renu; Levitsky, Dmitrii I.; Kull, F. Jon; Geeves, Michael A.; Manstein, Dietmar J. // EMBO Reports; Dec2002, Vol. 3 Issue 12, p1228
Presents a correction to the article "Mutations in the relay loop region result in dominant-negative inhibition of myosin II function in Dictyostelium," that was previously published in "EMBO Reports."
- A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic?
Simon, David K.; Tarnopolsky, Mark A.; Greenamyre, J. Timothy; Johns, Donald R. // Journal of Medical Genetics; Jan2001, Vol. 38 Issue 1, p58
Presents a letter to the editor about a gene mutation in a patient with dystonia and cataracts.
Simon, David K.; Tarnopolsky, Mark A.; Greenamyre, J. Timothy; Johns, Donald R. // Journal of Medical Genetics; Jan2001, Vol. 38 Issue 1, p79
Presents a correction to the article "Haim-Munk Syndrome and Papillon-LefÃ¨vre Syndrome Are Allergic Mutations in Cathepsin C" that was previoulsy published in the February 2000 issue of "Journal of Medical Genetics."
- Mutation in KCNQ1 that has both recessive and dominant characteristics.
Murray, A.; Potet, F.; Bellocq, C.; Baró, I.; Reardon, W.; Hughes, H.E.; Jeffery, S. // Journal of Medical Genetics; Sep2002, Vol. 39 Issue 9, p681
Investigates the recessive pattern of inheritance in the mutation in KCNQ1 genes. Electrophysiological analysis; Intranuclear injection of plasmids; Functional expression of mutated isoforms.
- Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.
Sébillon, P.; Bouchier, C.; Bidot, L.D.; Bonne, G.; Ahamed, K.; Charron, P.; Drouin-Garraud, V.; Millaire, A.; Desrumeaux, G.; Benaïche, A.; Charniot, J.-C.; Schwartz, K.; Villard, E.; Komajda, M. // Journal of Medical Genetics; Aug2003, Vol. 40 Issue 8, p560
Details the mutational analysis of lamin A/C gene (LMNA) in a large white population of patients affected by dilated cardiomyopathy (DCM) with or without associated symptoms. Missense mutation identified in a family with early atrial fibrillation and a previously described mutation in another...
- SPINK1 mutations predispose to chronic pancreatitis.
Sébillon, P.; Bouchier, C.; Bidot, L.D.; Bonne, G.; Ahamed, K.; Charron, P.; Drouin-Garraud, V.; Millaire, A.; Desrumeaux, G.; Benaïche, A.; Charniot, J.-C.; Schwartz, K.; Villard, E.; Komajda, M. // Journal of Medical Genetics; Aug2003, Vol. 40 Issue 8, p590
Discusses the abstract of the article 'SPINK1 mutations predispose to chronic pancreatitis,' published in a previous issue of 'Gut.'
- Attenuation of an amino-terminal premature stop codon mutation in the ATRX gene by an alternative mode of translational initiation.
Howard, M. T.; Malik, N.; Anderson, C. B.; Voskuli, J. L. A.; Atkins, J. F.; Gibbons, R. J. // Journal of Medical Genetics; Dec2004, Vol. 41 Issue 12, p951
Presents a letter to the editor concerning the premature stop codon mutations.
- A Germline Mutation in BLOC1S3/Reduced Pigmentation Causes a Novel Variant of Hermansky Pudlak Syndrome (HPS8).
Morgan, Neil; Pasha, S.; Ainsworth, J. R.; Eady, R. A. J.; McKeown, C.; Trembath, R. C.; Wilde, J.; Johnson, C. A.; Maher, E. R. // Journal of Medical Genetics; Sep2005, Vol. 42, pS18
Presents an abstract of the article "A Germline Mutation in BLOC 1S3/reduced Pigmentation Causes a Novel Variant of Hermansky Pudlak Syndrome," by Neil Morgan, S. Pasha, J.R. Ainsworth, R.A.J. Eady, C. McKeown, R.C. Trembath, J. Wilde, C.A. Johnson, and E.R. Maher.
- The Trouble With Phenocopies: Are Those Testing Negative for a Family BRCAÂ½ Mutation Really at Population Risk?
Evans, Gareth; Smith, A.; Moran, A.; Boyd, M. C.; Bulman, M.; Shenton, A.; Smith, L.; Iddenden, R.; Woodward, E.; Lallo, F. // Journal of Medical Genetics; Sep2005, Vol. 42, pS30
Presents an abstract of the article "The Trouble with Phenocopies: Are Those Testing Negative For a Family BRCA 1/2 Mutation Really at Popular Risk?" by Gareth Evans, A. Smith, A. Moran, M.C. Boyd, M. Bulman, A. Shenton, l. Smith, R. Iddenden, E. Woodward, F. Lalloo.
- Inherited and Acquired Mutations of the ATRX Protein.
Higgs, Doug // Journal of Medical Genetics; Sep2005, Vol. 42, pS36
Presents an abstract of the article "Inherited and Acquired Mutations of the ATRX Protein," by Doug Higgs.
- The Role of PTPN11 mutations in Noonan and LEOPARD syndromes.
Short, John; Shaw, A.; Kalidas, K.; Jeffery, S.; Patton, M.; Taylor, R. // Journal of Medical Genetics; Sep2005, Vol. 42, pS99
Presents the abstract "The Role of PTPN11 Mutations in Noonan and LEOPARD Syndromes," by John Short, A, Shaw, K. Kalidas, S. Jeffrey, M. Patton, and R. Taylor.
- A new approach for the identification of common point mutations within the dystrophin gene using MLPA.
Skinner, Alison; Ashton, E. J.; Sillibourne, J.; Brown, T.; Collins, A. L.; Bunyan, D. J. // Journal of Medical Genetics; Sep2005, Vol. 42, pS100
Presents the abstract "A New Approach for the Identification of Common Point Mutations Within the Dystrophin Gene Using MLPA," by Alison Skinner, E. J. Ashton, J. Sillibourne, T. Brown, A. L. Collins, and D. J. Bunyan.
- Screening for APC mutations in the Iranian FAP patients.
Shahmoradgoli, Maria; Mueller, O.; Kutzner, N.; Rostami, P.; Najmabadi, H.; Dalgleish, R.; Noonnayer, B.; Zali, M. // Journal of Medical Genetics; Sep2005, Vol. 42, pS102
Presents the abstract "Screening for APC Mutations in the Iranian FAP Patients," by Maria Shahmoradgoli, O. Mueller, N. Kutzner, P. Rostami, H. Najmabadi, R. Dalgleish, B. Noorinayer, and M. Zali.
- Analysis of the pathogenicity of two missense mutations c.302GÂ»A (G101D) and c.2146GÂ»A (V716M) within a diagnostic laboratory.
Logan, W. Peter; Devlin, L. A.; Mckee, S.; Sweet, K.; Magee, A.; Morrison, P. J. M.; Graham, C. A. // Journal of Medical Genetics; Sep2005, Vol. 42, pS116
Presents an abstract of the article "Analysis of the Pathogenicity of Two Missense Mutations c.302GÂ»A (G101D) and c.2146GÂ»A (V716M) Within a Diagnostic Laboratory," by W. Peter Logan, L. A. Devlin, S. McKee, K. Sweet, A. Magee, P. J. M. Morrison and C. A. Graham.
- A novel fluorescence-based multiplex PCR assay for rapid simultaneous detection of CEBPA mutations and NPM mutations in patients with acute myeloid leukemias.
Lin, L-I; Lin, T-C; Chou, W-C; Tang, J-L; Lin, D-T; Tien, H-F // Leukemia (08876924); Oct2007, Vol. 21 Issue 10, p2236
A correction to the article "A novel fluorescence-based multiplex PCR assay for rapid simultaneous detection of CEBPA mutations and NPM mutations in patients with acute myeloid leukemias," that was published previously is presented.
- A Novel Method Distinguishes Between Mutation Rates and Fixation Biases in Patterns of Single-Nucleotide Substitution.
Lipatov, Mikhail; Arndt, Peter; Hwa, Terence; Petrov, Dmitri // Journal of Molecular Evolution; Feb2006, Vol. 62 Issue 2, p245
A correction to the article "A Novel Method Distinguishes Between Mutation Rates and Fixation Biases in Patterns of Single-Nucleotide Substitution" that was published in the previous issue is presented.
- Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation.
Grant, Augustus O.; Carboni, Michael P.; Nepliouva, Valentina; Starmer, C. Frank; Memmi, Mirellla; Napolitano, Carlo; Priori, Silvia // Journal of Clinical Investigation; 10/15/2002, Vol. 110 Issue 8, p1201
Presents a study which examined the familial consequences of the single mutation of long QT syndrome, Brugada syndrome, and conduction system disease. Methods; Results; Discussion.
- Role of mutator alleles in adaptive evolution.
Taddei, F.; Radman, M. // Nature; 6/12/1997, Vol. 387 Issue 6634, p700
Considers whether high mutation rates might play an important role in adaptive evolution. The possibility that less potent mutators can become fixed in a fraction of finite populations; The parameters of the model as set to values typical for Escherichia coli cultures.
- Genomic instability: Close-up on cancer copy number alterations.
Burgess, Darren J. // Nature Reviews Genetics; Jan2012, Vol. 13 Issue 1, p5
The article presents a study in which authors found a significant enrishment of somatic copy number alterations (SCNAs) boundaries in late replicating regions which correlates with a known higher point mutation rate and may reflect a shortage of repair opportunities before mitosis.
- Novel human pathological mutations.
Martínez-Rubio, Dolores; Millán, José; Palau, Francesc; Espinós, Carmen // Human Genetics; Apr2009, Vol. 125 Issue 3, p353
A correction to the article "Novel Human Pathological Mutations" that was published in the previous issue is presented.
- Novel human pathological mutations.
Martínez-Rubio, Dolores; Millán, José; Palau, Francesc; Espinós, Carmen // Human Genetics; Apr2009, Vol. 125 Issue 3, p333
The article lists the newly discovered human gene mutations including APC in Familial Adenomatous Polyposis, SLC34A2 in Pulmonary alveolar microlithiasis and PYGM in McArdle disease.
- Strong male-driven evolution of DNA sequences in humans and apes.
Makova, Kateryna D.; Li, Wen-Hsiung // Nature; 4/11/2002, Vol. 416 Issue 6881, p624
Studies of human genetic diseases have suggested a higher mutation rate in males than in females and the male-to-female ratio (Î±) of mutation rate has been estimated from DNA sequence and microsatellite data to be about 4?6 in higher primates. Two recent studies, however, claim that Î± is...
- The evolution of the G matrix: selection or drift?
Roff, Derek // Heredity; Feb2000, Vol. 84 Issue 2, p135
The evolution of quantitative characters can be described by the equation Î”z=GP-1S where Î”z is the vector of mean responses, G is the matrix of additive genetic variances and covariances, P is the matrix of phenotypic variances and covariances and S is the vector of selection...
- Distribution of the transposable element mariner in anopheline mosquitoes.
Imwong, Mallika; Sharpe, Rosie Gail; Kittayapong, Pattamaporn; Baimai, Visut // Heredity; Sep2000, Vol. 85 Issue 3, p271
We have surveyed the distribution of the transposable element mariner using PCR in 23 species of Anopheles mosquitoes, including all of the most important vectors of malaria in South-east Asia. Sequencing of the nine positive species revealed elements from the irritans, mauritiana and mellifera...
- Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities.
Igarashi, Takashi; Inatomi, Jun; Sekine, Takashi; Cha, Seok Ho; Kanai, Yoshikatsu; Kunimi, Motoei; Tsukamoto, Kazuhisa; Satoh, Hiroaki; Shimadzu, Mitsunobu; Tozawa, Fumiko; Mori, Tetsuo; Shiobara, Masaaki; Seki, George; Endou, Hitoshi // Nature Genetics; Nov99, Vol. 23 Issue 3, p264
Focuses on the detection of inactivating homozygous mutations in kidney SLC4A4 in two unrelated patients having permanent isolated proximal renal tubular acidosis with ocular abnormalities. Results of blood gas analysis; Genomic DNA sequencing of the kidney.
- Mutation of the ST7 tumor suppressor gene on 7q31.1 is rare in breast, ovarian and colorectal cancers.
Thomas, Nicola A.; Choong, David Y.H.; Jokubaitis, Venta J.; Neville, Phillippa J.; Campbell, Ian G. // Nature Genetics; Dec2001, Vol. 29 Issue 4, p379
The gene ST7 has recently been implicated as the broad-range tumor suppressor on human chromosome 7q31.1. We did not detect somatic mutations in ST7 in any of 149 primary ovarian, breast or colon carcinomas. These data suggest that epigenetic downregulation or haploinsufficiency, rather than...
- Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease.
Backman, Stéphanie A.; Stambolic, Vuk; Suzuki, Akira; Haight, Jillian; Elia, Andrew; Pretorius, James; Tsao, Ming-Sound; Shannon, Patrick; Bolon, Brad; Ivy, Gwen O.; Mak, Tak W. // Nature Genetics; Dec2001, Vol. 29 Issue 4, p396
Initially identified in high-grade gliomas, mutations in the PTEN tumor-suppressor are also found in many sporadic cancers and a few related autosomal dominant hamartoma syndromes. PTEN is a 3'-specific phosphatidylinositol3,4,5-trisphosphate (PI(3,4,5)P[sub 3]) phosphatase and functions as a...