Citations with the tag: MUTATION (Biology)

Results 251 - 300

  • 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 BRCA½ 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.302G»A (G101D) and c.2146G»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.302G»A (G101D) and c.2146G»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 (α) 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 α 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 Δz=GP-1S where Δz 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...

  • Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.
    Leegwater, Peter A.J.; Vermeulen, Gerre; Könst, Andrea A.M.; Naidu, Sakkubai; Mulders, Joyce; Visser, Allerdien; Kersbergen, Paula; Mobach, Dragosh; Fonds, Dafna; van Berkel, Carola G.M.; Lemmers, Richard J.L.F.; Frants, Rune R.; Oudejans, Cees B.M.; Schutgens, Ruud B.H.; Pronk, Jan C.; van der Knaap, Marjo S. // Nature Genetics; Dec2001, Vol. 29 Issue 4, p383 

    Leukoencephalopathy with vanishing white matter (VWM) is an inherited brain disease that occurs mainly in children. The course is chronic-progressive with additional episodes of rapid deterioration following febrile infection or minor head trauma. We have identified mutations in EIF2B5 and...

  • correction: Mutations in the protein tyrosine kinase gene, PTPN11, cause Noonan syndrome.
    Mandel, H.; Szargel, R.; Labay, V.; Elpeleg, O.; Saada, A.; Shalata, A.; Anbinder, Y.; Berkowitz, D.; Hartman, C.; Barak, M.; Eriksson, S.; Cohen, N. // Nature Genetics; Dec2001, Vol. 29 Issue 4, p491 

    Presents a correction of the error made in the article on the role of mutations in the protein tyrosine kinase gene PTPN11 in Noonan syndrome.

  • correction: The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.
    Tartaglia, M.; Mehler, E.L.; Goldberg, R.; Zampino, G.; Brunner, H.G.; Kremer, H.; van der Burgt, I.; Crosby, A.H.; Ion, A.; Jeffery, S.; Kalidas, K.; Patton, M.A.; Kucherlapati, R.S.; Gelb, B. // Nature Genetics; Dec2001, Vol. 29 Issue 4, p491 

    Presents a correction of the error made in the article on the mutation of the deoxyguanosin kinase gene.

  • Lost in translation.
    Julier, Cécile // Nature Genetics; Dec2001, Vol. 29 Issue 4, p358 

    Translation initiation is a tightly regulated process, central to cell function, and proteins involved in this process and its regulation are highly conserved throughout evolution. New results show that mutations in genes encoding subunits of the ubiquitously expressed elF2B translation...

  • Reply to “Is mismatch repair really required for ionizing radiation-induced DNA damage signaling?”.
    Brown, Kevin D; Baskaran, R // Nature Genetics; May2004, Vol. 36 Issue 5, p434 

    Presents a letter to the editor about mismatch repair deficiency.

  • Corrigendum: Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
    Gerull, B.; Heuser, A.; Wichter, T.; Paul, M.; Basson, C. T.; McDermott, D. A.; Lerman, B. B.; Markowitz, S. M.; Ellinor, P. T.; MacRae, C. A.; Peters, S.; Grossman, K. S.; Michely, B.; Sasse-Klaassen, S.; Birchmeier, M.; Dietz, R.; Breithardt, G.; Schulze-Bahr, E.; Thierfelder, L. // Nature Genetics; Jan2005, Vol. 37 Issue 1, p106 

    Presents a correction to the article "Mutations in the Desmosomal Protein Plakophilin-2 Are Common in Arrhythmogenic Right Ventricular Cardiomyopathy, published in the previous issue of the journal "Nature Genetics."

  • Erratum: Mutations in different components of FGF signaling in LADD syndrome.
    Rohmann, Edyta; Brunner, Han G; Kayserili, Hülya; Uyguner, Oya; Nürnberg, Gudrun; Lew, Erin D.; Dobbie, Angus; Eswarakumar, Veraragavan P.; Uzumcu, Abdullah; Ulubil-Emeroglu, Melike; Leroy, Jules G.; Yun Li; Becker, Christian; Lehnerdt, Kai; Cremers, Cor W. R. J.; Yüksel-Apak, Memnune; Nürnberg, Peter; Kubisch, Christian; Schlessinger, Joseph; van Bokhoven, Hans // Nature Genetics; Apr2006, Vol. 38 Issue 4, p495 

    A correction to the article "Mutations in Different Components of FGF Signaling in LADD Syndrome" that was published in the 2006 issue is presented.

  • Explaining the biological activity of transactivation-deficient p53 variants.
    Tang, Mengjia; Wahl, Geoffrey M; Nistér, Monica // Nature Genetics; Apr2006, Vol. 38 Issue 4, p395 

    A letter to the editor is presented in response to an article about a conditional mouse Trp 53 allele with mutations changing codons to glutamine and serine.

  • Detecting recent positive selection in the human genome from haplotype structure.
    Sabeti, Pardis C.; Reich, David E.; Higgins, John M.; Levine, Haninah Z. P.; Richter, Daniel J.; Schaffner, Stephen F.; Gabriel, Stacey B.; Platko, Jill V.; Patterson, Nick J.; McDonald, Gavin J.; Ackerman, Hans C.; Campbell, Sarah J.; Altshuler, David; Cooper, Richard; Kwiatkowski, Dominic; Ward, Ryk; Lander, Eric S. // Nature; 10/24/2002, Vol. 419 Issue 6909, p832 

    The ability to detect recent natural selection in the human population would have profound implications for the study of human history and for medicine. Here, we introduce a framework for detecting the genetic imprint of recent positive selection by analysing long-range haplotypes in human...

  • Reply to Talseth-Palmer et al.
    Houlle, Solene; Charbonnier, Françoise; Houivet, Estelle; Tinat, Julie; Buisine, Marie-Pierre; Caron, Olivier; Benichou, Jacques; Baert-Desurmont, Stéphanie; Frebourg, Thierry // European Journal of Human Genetics; May2012, Vol. 20 Issue 5, p488 

    A response by Houlle Solene and collegues to a letter on their article "Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers," is presented.

  • Radiological signs of Léri-Weill dyschondrosteosis present in the A170P carrier.
    Heath, Karen E. // Journal of Clinical Pathology; 10/ 1/2012, Vol. 65 Issue 10, p962 

    A letter to the editor is shown in response to the article "A170P Mutation in SHOX gene in a Patient Not Presenting with Madelung Deformity."

  • XDH gene mutation is the underlying cause of classical xanthinuria: A second report.
    Levartovsky, David; Lagziel, Ayala; Sperling, Oded; Liberman, Uri; Yaron, Michael; Hosoya, Tatsuo; Ichida, Kimiyoshi; Peretz, Hava // Kidney International; Jun2000, Vol. 57 Issue 6, p2215 

    XDH gene mutation is the underlying cause of classical xanthinuria: A second report. Background. Classical xanthinuria is a rare autosomal recessive disorder characterized by excessive excretion of xanthine in urine. Type I disease results from the isolated deficiency of xanthine dehydrogenase...

  • Defective mitosis due to a mutation in the gene for a fission yeast 26S protease subunit.
    Gordon, Colin; McGurk, Gordon; Dillon, Patrick; Rosen, Craig; Hastie, Nicholas D. // Nature; 11/25/1993, Vol. 366 Issue 6453, p355 

    Focuses on the defective mitosis of the mts2 mutant fission yeast Schizosaccharomyces pombe. Defective chromosome segregation; Comparison with the S4 subunit complementary DNA of the human 26S ATP/ubiquitin-dependent protease; Genetic evidence for a physical interaction between the S4 and S7...

  • Cold-sensitive mutations of Dictyostelium myosin heavy chain highlight functional domains of the...
    Patterson, Bruce; Spudich, James A. // Genetics; Jun96, Vol. 143 Issue 2, p801 

    Studies the cold-sensitive mutation of Dictyostelium. Characterization of Dictyostelium myosin function; Causes of the absence of myosin function; Method of localizing myosin mutations in Dictyostelium.

  • A metabolic basis for dominance and recessivity.
    Keightley, Peter D. // Genetics; Jun96, Vol. 143 Issue 2, p621 

    Opinion. Focuses on the study of genetic dominance. Theoretical basis of dominance and recessivity; Evolutionary and physiological explanations for dominance; Dominant mutations.

  • A search for a general phenomenon of adaptive mutability.
    Galitski, Timothy; Roth, John R. // Genetics; Jun96, Vol. 143 Issue 2, p645 

    Studies the phenomenon of adaptive mutability. Analysis of the behavior of Salmonella typhimurium strains; Specialized activities of genetic elements; Calculation of the number late revertants.

  • Inferring Parameters of Mutation, Selection and Demography From Patterns of Synonymous Site...
    McVean, Gilean A.T.; Vieira, Jorge // Genetics; Jan2001, Vol. 157 Issue 1, p245 

    Investigates the quantitative realtionship between parameters of mutation, selection, demography and patterns of synonymous site divergence in Drosophila by developing a novel combination of population genetic models and likelihood methods of phylogenetic sequence analysis. Application to...

  • Drosophila Lyra Mutations Are Gain-of-Function Mutations of senseless.
    Nolo, Riitta; Abbott, Lois A. // Genetics; Jan2001, Vol. 157 Issue 1, p307 

    Reports that Lyra mutations in Drosophila are gain-of-function mutations of the senseless gene. Ectopic expression of the senseless gene in the wing pouch of Lyra mutants; Loss of delta, vestigial, wingless and cut expression caused by Lyra mutations; Effect of ectopic expression of the...

  • Genetic Factors Required to Maintain Repression of a Paramutagenic Maize pl1 Allele.
    Hollick, Jay B.; Chandler, Vicki L. // Genetics; Jan2001, Vol. 157 Issue 1, p369 

    Describes a seedling-based genetic screen that identified novel maize loci required to maintain repression 1 and 2 whose functions are required to repress the paramutagenic pl1 allele. Maize mutations generated by pollen mutagenesis; Mutations identified to be affecting seedling and anther...

  • Mutations in the YRB1 Gene Encoding Yeast Ran-Binding-Protein-1 That Impair Nucleocytoplasmic...
    Kunzler, Markus; Trueheart, Joshua; Sette, Claudio; Hurt, Eduard; Thorner, Jeremy // Genetics; Mar2001, Vol. 157 Issue 3, p1089 

    Focuses on two temperature-sensitive mutation in the essential gene, YRB1. Product result of the mutations; Reaction of the mutants following exposure to restrictive temperature; Factor necessary for downregulating mating response.

  • A screen for genetic loci required for hypodermal cell and glial-like cell development during...
    Chanal, Philippe; Labouesse, Michel // Genetics; May97, Vol. 146 Issue 1, p207 

    Describes the results of screens designed for the identification of mutations affecting the Caenorhabditis elegans lin-26 gene. Deficiencies of majority of the genome; Proposed loci required for normal lin-26 expression; Implications for the generation of the ectoderm.

  • Isolation of mutations in the Drosophila homologues of the human Neurofibromatosis 2 and yeast...
    Fehon, Richard G.; Oren, Tal; LaJeunesse, Dennis R.; Melby, Thomas E.; McCartney, Brooke M. // Genetics; May97, Vol. 146 Issue 1, p245 

    Analyzes the isolation of mutations in the Drosophila homologues using the reverse-genetic method. Description of the method; Evaluation of the efficacy of the method; Application of the method for the isolation of mutations in other X-linked genes.

  • Phytoalexin-deficient mutants of Arabidopsis reveal that PAD4 encodes a regulatory factor and...
    Glazebrook, Jane; Zook, Michael; Mert, Figen; Kagan, Isabelle; Rogers, Elizabeth E.; Crute, Ian R.; Holub, Eric B.; Hammerschmidt, Raymond; Ausubel, Frederick M. // Genetics; May97, Vol. 146 Issue 1, p381 

    Cites the significance of pad mutants in Arabidopsis-pathogen interactions. Plant defense responses; Antimicrobial properties of phytoalexins; Determination of the role of the Arabidopsis phytoalexin; Description of the isolation of the pad mutations.

  • Mutants of Arabidopsis thaliana hypersensitive to DNA-damaging treatments.
    Masson, Jean E.; King, Patrick J.; Paszkowski, Jerzy // Genetics; May97, Vol. 146 Issue 1, p401 

    Focuses on the development of a screening method for the isolation of Arabidopsis thaliana mutants hypersensitive to DNA-damaging treatments. Characterization of Arabidopsis mutants; Significance of the alterations in single recessive alleles on the phenotypes; Correlation of hypersensitivity to...

  • TLR4 mutations are associated with endotoxin hyporesponsiveness in humans.
    Arbour, Nancy C.; Lorenz, Eva; Schutte, Brian C.; Zabner, Joseph; Kline, Joel N.; Jones, Michael; Frees, Kathy; Watt, Janet L.; Schwartz, David A. // Nature Genetics; Jun2000, Vol. 25 Issue 2, p187 

    There is much variability between individuals in the response to inhaled toxins, but it is not known why certain people develop disease when challenged with environmental agents and others remain healthy. To address this, we investigated whether TLR4 (encoding the toll-like receptor-4), which...

  • Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.
    Netchine, Irène; Sobrier, Marie-Laure; Krude, Heiko; Schnabel, Dirk; Maghnie, Mohamed; Marcos, Elisabeth; Duriez, Bénédicte; Cacheux, Valère; Moers, Arpard v.; Goossens, Michel; Grüters, Annette; Amselem, Serge // Nature Genetics; Jun2000, Vol. 25 Issue 2, p182 

    Combined pituitary hormone deficiency (CPHD) has been linked with rare abnormalities in genes encoding transcription factors necessary for pituitary development. We have isolated LHX3, a gene involved in a new syndrome, using a candidate-gene approach developed on the basis of documented...

  • Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.
    Ménasché, Gaël; Pastural, Elodie; Feldmann, Jérôme; Certain, Stéphanie; Ersoy, Fügen; Dupuis, Sophie; Wulffraat, Nico; Bianchi, Diana; Fischer, Alain; Le Deist, Françoise; de Saint Basile, Geneviève // Nature Genetics; Jun2000, Vol. 25 Issue 2, p173 

    Griscelli syndrome (GS, MIM 214450), a rare, autosomal recessive disorder, results in pigmentary dilution of the skin and the hair, the presence of large clumps of pigment in hair shafts and an accumulation of melanosomes in melanocytes. Most patients also develop an uncontrolled T-lymphocyte...

  • Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema.
    Karkkainen, Marika J.; Ferrell, Robert E.; Lawrence, Elizabeth C.; Kimak, Mark A.; Levinson, Kara L.; McTigue, Michele A.; Alitalo, Kari; Finegold, David N. // Nature Genetics; Jun2000, Vol. 25 Issue 2, p153 

    Primary lymphoedema is a rare, autosomal dominant disorder that leads to a disabling and disfiguring swelling of the extremities and, when untreated, tends to worsen with time. Here we link primary human lymphoedema to the FLT4 locus, encoding vascular endothelial growth factor receptor-3...

  • Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.
    Watnick, Terry; He, Ning; Wang, Kairong; Liang, Yan; Parfrey, Patrick; Hefferton, Donna; St George-Hyslop, Peter; Germino, Gregory; Pei, York // Nature Genetics; Jun2000, Vol. 25 Issue 2, p143 

    Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1 and PKD2. The products of these genes associate to form heteromeric complexes. Several models have been proposed to explain the mechanism of cyst formation. Here we find somatic mutations of PKD2 in 71% of ADPKD2...

  • Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.
    Chavanas, Stéphane; Bodemer, Christine; Rochat, Ariane; Hamel-Teillac, Dominique; Ali, Mohsin; Irvine, Alan D.; Bonafé, Jean-Louis; Wilkinson, John; Taïeb, Alain; Barrandon, Yann; Harper, John I.; de Prost, Yves; Hovnanian, Alain // Nature Genetics; Jun2000, Vol. 25 Issue 2, p141 

    We describe here eleven different mutations in SPINK5, encoding the serine protease inhibitor LEKTI, in 13 families with Netherton syndrome (NS, MIM256500). Most of these mutations predict premature termination codons. These results disclose a critical role of SPINK5 in epidermal barrier...

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