Citations with the tag: MUTATION (Biology)
Results 251 - 300
- BRCA2 splice site mutations in an Italian breast/ovarian cancer family.
D�ez, O.; Guti�rrez-Enr�quez, S. // Annals of Oncology; Jul2009, Vol. 20 Issue 7, p1285
A letter to the editor is presented in response to the article "Two Mutations of BRCA2 Gene at Exon and Splicing Site in a Woman Who Underwent Oncogenetic Counseling," by M. Pensabene, I. Spagnoletti and I. Capuano, published in a previous issue.
- Researchers expand genetic epidemiology of BRCA genes.
Kuska, Bob // JNCI: Journal of the National Cancer Institute; 06/18/97, Vol. 89 Issue 12, p844
Presents a study on the statistical research of cancer genes in people born with mutations. List of publications that profiles mutations; Occurrence of mutation among breast and ovarian cancer families; Establishment of mutation frequency.
- Biologic and Biochemical Analyses of p16[sup INK4a] Mutations From Primary Tumors.
Yarbrough, Wendell G.; Buckmire, Robert A.; Bessho, Mika; Liu, Edison T. // JNCI: Journal of the National Cancer Institute; 09/15/99, Vol. 91 Issue 18, p1569
Presents information on a study which investigated the functional activities of a wide range of naturally occurring p16 mutant proteins. Identification of p16 mutants; Inhibition of cyclin-dependent kinase 6 activity; Discussion and conclusion.
Yarbrough, Wendell G.; Buckmire, Robert A.; Bessho, Mika; Liu, Edison T. // Journal of Child Neurology; Jun2012, Vol. 27 Issue 6, p829
A correction to the article "Expanding Phenotype and Clinical Analysis of Tyrosine Hydroxylase Deficiency" is presented.
- Kirsten ras mutations in patients with colorectal cancer: The multicenter `RASCAL' study.
Andreyev, H. Jervoise N.; Norman, Andrew R.; Cunningham, David; Oates, Jacqueline R.; Clarke, Paul A. // JNCI: Journal of the National Cancer Institute; 05/06/98, Vol. 90 Issue 9, p675
Presents a study which looked at the presence of a mutation in the Ki-ras gene information to prognostic significance. Aim of the study; Details on the methodology used to conduct the study; Characteristics of the patients; Detection of the presence of a mutation; Results of the study.
- Multifactorial analysis of differences between sporadic breast cancers and cancers involving...
Lakhani, Sunil R.; Jacquemier, Jocelyne; Sloane, John P.; Gusterson, Barry A.; Anderson, Thomas J.; van de Vijver, Mark J.; Farid, Linda M.; Venter, Deon; Antoniou, Antonios; Storfer-Isser, Amy // JNCI: Journal of the National Cancer Institute; 08/05/98, Vol. 90 Issue 15, p1138
Presents a study which examined cytologic and architectural features of BRCA1 and BRCA2 gene mutations associated with breast cancer. How these gene mutations differ from each other in their histopathologic appearances; Comparison of the pathology of breast cancers in patients carrying...
- Left, right: a step forward in understanding transposition of the great arteries.
Keavney, Bernard // Heart; May2010, Vol. 96 Issue 9, p3
The article comments on the effect of mutations in laterality genes on the risk for familial transposition of the great arteries (TGA).
- A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.
Muglia, M.; Vazza, G.; Patitucci, A.; Milani, M.; Pareyson, D.; Taroni, F.; Quattrone, A.; Mostacduolo, M. L. // Journal of Neurology, Neurosurgery & Psychiatry; Nov2007, Vol. 78 Issue 11, p1286
A letter to the editor is presented that focuses on mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.
- Testing for JAK2V617F mutation across specimen types yields concordant results.
Mirza, I.; Sekora, D.; Frantz, C. // Journal of Clinical Pathology; Aug2008, Vol. 61 Issue 8, p975
A letter to the editor is presented about testing for JAK2V617F mutation across specimen.
- Mutation Vif-22H, which allows HIV-1 to use the APOBEC3G hypermutation to develop resistance, could appear more quickly in certain non-B variants.
Yebra, G.; Holguín, A. // Journal of Antimicrobial Chemotherapy (JAC); Apr2011, Vol. 66 Issue 4, p941
A letter to the editor is presented in response to the article "Mutation Vif-22H, which allows HIV-1 to use the APOBEC3G hypermutation to develop resistance, could appear more quickly in certain non-B variants."
- New Mutation in the hMSH2 Gene in a Spanish Muir-Torre Syndrome.
Caldés, Trinidad; Godino, Javier; Perez-Segura, Pedro; de la Hoya, Miguel; Diaz-Rubio, Eduardo; Benito, Manuel // American Journal of Gastroenterology; Sep2000, Vol. 95 Issue 9, p2389
Presents a letter to the editor about the mutation in the hMSH2 gene in a Spanish Muir-Torre syndrome.
Caldés, Trinidad; Godino, Javier; Perez-Segura, Pedro; de la Hoya, Miguel; Diaz-Rubio, Eduardo; Benito, Manuel // Corridor Business Journal; 5/17/2010, Vol. 6 Issue 43, p19
The comic strip "Dilbert" is presented.
- Mutations in the Cystic Fibrosis Transmembrane Regulator Gene in Patients With Tropical Calcific Pancreatitis.
Bhatia, Eesh; Durie, Peter; Zielenski, Julian; Lam, David; Sikora, Sadiq S.; Choudhuri, Gourdas; Lap-Chee Tsui // American Journal of Gastroenterology; Dec2000, Vol. 95 Issue 12, p3658
Presents a letter to the editor about cases of mutations in the cystic fibrosis transmembrane regulator gene of patients with tropical calcific pancreatitis.
- Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia.
Dalski, Andreas; Mitulla, Beate; Bürk, Katrin; Schattenfroh, Christoph; Schwinger, Eberhard; Zühlke, Christine // Journal of Neurology; Aug2006, Vol. 253 Issue 8, p1111
A letter to the editor is presented in response to the article "Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia," published in the online edition of the "Journal of Neurology" on April 28, 2006.
- A novel presenilin 1 mutation (L282F) in familial Alzheimerâ€™s disease.
Hamaguchi, Tsuyoshi; Morinaga, Akiyoshi; Tsukie, Tamao; Kuwano, Ryozo; Yamada, Masahito // Journal of Neurology; Sep2009, Vol. 256 Issue 9, p1575
A letter to the editor on a case involving a novel presenilin 1 mutation (L282F) in familial Alzheimer's disease is presented.
- Genetic relationship between Murcia Region (SE Spain) and other populations in the Iberian Peninsula and Mediterranean area with respect to HFE gene mutations distribution.
Muro, Manuel; Moya-Quiles, Maria; Botella, Carmen; García, Leontino; Minguela, Alfredo; Álvarez-López, María R. // Annals of Hematology; Jun2007, Vol. 86 Issue 6, p455
A letter to the editor is presented in reference to articles about genetic relationship between Murcia Region (SE Spain) and other populations in the Iberian Peninsula and Mediterranean area with respect to HFE gene mutations distribution published in previous issues.
- Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study.
Pascal Philibert; Delphine Zenaty; Lin Lin; Sylvie Soskin; FranÃ§oise Audran; Juliane LÃ©ger; John C. Achermann; Charles Sultan // Human Reproduction; Dec2007, Vol. 22 Issue 12, p3255
BACKGROUND Steroidogenic factor 1 (SF1/AdBP4/FTZF1, NR5A1) is a nuclear receptor transcription factor that plays a key role in regulating adrenal and gonadal development, steroidogenesis and reproduction. Recently, haploinsufficiency of SF1 has been described in several 46,XY individuals with...
- Allergy link to CLOCK genes.
Pascal Philibert; Delphine Zenaty; Lin Lin; Sylvie Soskin; FranÃ§oise Audran; Juliane LÃ©ger; John C. Achermann; Charles Sultan // GP: General Practitioner; 3/18/2013, p25
The article offers information on a research study which states that severe allergic reactions could be triggered by mutations in genes that regulate the body's sense of time.
- Identification of a Germline Mutation in Keratin 17 in a Family with Pachyonychia Congenita Type 2.
Çelebi, Julide Tok; Tanzi, Elizabeth L.; Yao, Ya Juan; Michael, Elias J.; Peacocke, Monica // Journal of Investigative Dermatology; Nov99, Vol. 113 Issue 5, p0
Pachyonychia congenita type 2 (PC-2), also known as Jackson-Lawler type PC, is an autosomal dominant disorder characterized by hypertrophic nail dystrophy associated with focal keratoderma and multiple pilosebaceous cysts. It has been demonstrated that PC-2 is associated with germline mutations...
- Pyoderma gangrenosum in association with Janus kinase 2 (JAK2V617F) mutation.
Ien Chan // Current Medical Literature: Dermatology; 2013, Vol. 18 Issue 1, p22
A review of the article "Pyoderma gangrenosum in association with Janus kinase 2 (JAK2v617F) mutation," by Palanivel et al, which appeared in the journal of "Clinical and Experimental Dermatology is presented.
- Parasitism, mutation accumulation and the maintenance of sex.
Howard, R. Stephen; Lively, Curtis M. // Nature; 2/10/1994, Vol. 367 Issue 6463, p554
Explains biparental sex as a means of evading parasitism and expunging of harmful mutation genomes. Stability of the evolution of sex with the interaction of mutation accumulation and host-parasite coevolution; Extinction of parthenogenetic mutant clones over time in sexual populations.
Howard, R. Stephen; Lively, Curtis M. // Journal of Clinical Research in Pediatric Endocrinology; Mar2013, Vol. 5 Issue 1, p1
A correction to the article "Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism" that was published in a previous issue is presented.
- Absence of radius and ulna in mice lacking hoxa-11 and hoxd-11.
Davis, Allan Peter; Witte, David P. // Nature; 6/29/1995, Vol. 375 Issue 6534, p791
Describes mice with appendicular skeleton defects arising from individual mutations in the paralogous genes hoxa-11 and hoxd-11. Zones of vertebrate forelimbs; Intermediate phenotypes in the radius and ulna produced by intermediate genotypes with three mutant alleles; Characterization of normal...
- Targeting of non-Ig sequences in place of the V segment of somatic hypermutation.
Yelamos, J.; Klix, N. // Nature; 7/20/1995, Vol. 376 Issue 6537, p225
Demonstrates that the hypermutation can effectively target a variety of non-immunoglobulin sequences that have been used to replace the V segment. Affinity maturation of antibodies; Transgene constructs; Lack of necessity of the V gene in recruiting hypermutation; General applications in biology.
- Detection of tumor mutations in the presence of excess amounts of normal DNA.
Sun, Xiyuan; Hung, K.; Wu, L.; Sidransky, D.; Guo, Baochuan // Nature Biotechnology; Feb2002, Vol. 20 Issue 2, p186
Mutations are important markers in the early detection of cancer. Clinical specimens such as bodily fluid samples often contain a small percentage of mutated cells in a large background of normal cells. Thus, assays to detect mutations leading to cancer need to be highly sensitive and specific....
- Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and...
Muscatelli, Francoise; Strom, Tim M. // Nature; 12/15/1994, Vol. 372 Issue 6507, p672
Presents a study on the effect of mutations in the DAX-1 gene on x-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature of adrenal hypoplasia congenita (AHC); Link between hypogonadotropic hypogonadism (HHG) with AHC; Physical mapping of AHC-HHG critical region;...
- Inheritance of a Novel Flaccid Mutant in Capsicum annuum.
Bosland, P.W. // Journal of Heredity; Sep/Oct2002, Vol. 93 Issue 5, p380
Describes a novel mutation in Capsicum associated with a flaccid phenotype of cotyledons and mature leaves. Methodology; Results; Discussion.
- Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch...
Strand, Micheline; Prolla, Tomas A. // Nature; 9/16/1993, Vol. 365 Issue 6443, p274
Reports on the mutations in the three yeast genes in DNA mismatch repair. One hundred- to 700-fold increases in tract instability; DNA polymerases slipping during replication.
- Mutations in SOX2 cause anophthalmia.
Fantes, Judy; Ragge, Nicola K.; Lynch, Sally-Ann; McGill, Niolette I.; Collin, J. Richard O.; Howard-Peebles, Patricia N.; Hayward, Caroline; Vivian, Anthony J.; Williamson, Kathy; van Heyningen, Veronica; FitzPatrick, David R. // Nature Genetics; Apr2003, Vol. 33 Issue 4, p461
A submicroscopic deletion containing SOX2 was identified at the 3q breakpoint in a child with t(3;11)(q26.3;p11.2) associated with bilateral anophthalmia. Subsequent SOX2 mutation analysis identified de novo truncating mutations ofSOX2 in 4 of 35 (11%) individuals with anophthalmia. Both eyes...
- A clinician's plea.
Hall, Judith G. // Nature Genetics; Apr2003, Vol. 33 Issue 4, p440
Focuses on dilemma of clinicians regarding detection of human gene mutations. Information required for the detection of human gene mutations; Problems encountered by clinicians in detection of appropriate therapy for the patient; Requirements needed by clinicians to determine appropriate test...
- Mutations in KERA, encoding keratocan, cause cornea plana.
Pellegata, Natalia S.; Dieguez-Lucena, Jose L.; Joensuu, Tarja; Lau, Stephanie; Montgomery, Kate T.; Krahe, Ralf; Kivelä, Tero; Kucherlapati, Raju; Forsius, Henrik; de la Chapelle, Albert // Nature Genetics; May2000, Vol. 25 Issue 1, p91
Specialized collagens and small leucine-rich proteoglycans (SLRPs) interact to produce the transparent corneal structure. In cornea plana, the forward convex curvature is flattened, leading to a decrease in refraction. A more severe, recessively inherited form (CNA2; MIM 217300) and a milder,...
- Erratum to â€œMSX1 mutation is associated with orofacial clefting and tooth agenesis in humansâ€.
Ruiz-Perez, Victor L. // Nature Genetics; May2000, Vol. 25 Issue 1, p125
Presents a correction to an article entitled 'MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans,' published in volume 24, year 2000 issue of the 'Nature Genetics' journal.
- A histone mutation in cancer.
Heinrichs, Arianne // Nature Structural & Molecular Biology; May2013, Vol. 20 Issue 5, p546
The article discusses a study which reveal that aberrant epigenetic silencing by the H3K27M gain-of-function mutation through inhibition of PRC2 activity may promote gliomagenesis, which could be linked to causing cancer.
- A new ankyrin mutation (ANK1 EXON E9X) causing severe hereditary spherocytosis in the neonatal period.
Gundel, Florian; Eber, Stefan; Heep, Axel // Annals of Hematology; Feb2011, Vol. 90 Issue 2, p231
A letter to the editor is presented regarding the presence of mutation E9X in the exon 1of ankyrin1 (ANK1) gene of a male neonate with spherocytosis.
- P53 mutation, expression, and DNA ploidy in evolving gliomas: Evidence for two pathways of...
van Meyel, Donald J.; Ramsay, David A. // JNCI: Journal of the National Cancer Institute; 7/6/94, Vol. 86 Issue 13, p1011
Analyzes 15 low-grade astrocytic gliomas that progressed to higher-grade gliomas, examining the status of the tumor suppressor gene p53 in both the initial and recurrent tumors. Clinical features; p53 mutations; p53 immunochemistry; DNA flow cytometry.
- MEFV gene mutations in Iranian patients with familial mediterranean fever (FMF).
Zali, Mohammad Reza; Moghaddam, Seyed Javad Mirhassani; Taghizadeh, Farnaz; Noroozi, Nastaran; Narimani, Akram; Peyman, Sarvin; Derakhshan, Faramarz // American Journal of Gastroenterology; Sep2003 Supplement, Vol. 98, pS72
An abstract of the article "MEFV Gene Mutations in Iranian Patients With Familial Mediterranean Fever (FMF)," by Mohammad Reza Zali, Seyed Javad Mirhassani Moghaddam, Farnaz Taghizadeh, Nastaran Noroozi, Akram Narimani, Sarvin Peyman, and Faramarz Derakhshan is presented.
- Andersen mutations of KCNJ2 suppress the native inward rectifier current IK1 in a dominant-negative fashion.
Lange, Philipp S.; Er, Fikret; Gassanov, Natig; Hoppe, Uta C. // Cardiovascular Research; Aug2003, Vol. 59 Issue 2, p321
Objective: The Andersenâ€™s syndrome is a hereditary disease, which is characterized by cardiac arrhythmias, periodic paralysis and dysmorphic features. Recently, mutations of the KCNJ2 gene, which encodes the inward rectifying potassium channel subunit Kir2.1, have been identified...
- Sensory systems: The smell of anxiety.
Yates, Darran // Nature Reviews Neuroscience; Jul2012, Vol. 13 Issue 7, p448
The article discusses research on mutation-induced functional deficits in the main olfactory epithelium (MOE) which references the study "Olfactory deficits cause anxiety-like behaviors in mice," by M. E. Glinka and colleagues.
- HFE Gene Mutations in Cryptogenic Cirrhosis Patients.
Sendi, Hossein; Mehrab-Mohseni, Marjan; Geramizadeh, Bita // Hepatitis Monthly; 2012, Vol. 12 Issue 1, p48
A letter to the editor is presented in response to the article "HFE Gene Mutations (C282Y and H63D) in a Group of Iranian Patients With Cryptogenic Cirrhosis," by Z. Jowkar, B. Germazideh, and M. Shariat in the November 2011 issue.
- Fade To White.
Geiger, Beth // Current Science; 1/6/2006, Vol. 91 Issue 9, p6
This article focuses on mutation in a lizard community in New Mexico desert.
- The Cells That Wouldn't DIE!
Geiger, Beth // Current Science; 2/9/2001, Vol. 86 Issue 11, p12
Reports the discovery of a mutated cell in Madison, Wisconsin. Description of the mutation; Views of pathologist Lyn Allen-Hoffman on the mutated cell; Advantages of using the long-lived cells.
- Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype.
Korge, Bernhard P.; Hamm, Henning; Jury, Catherine S.; Traupe, Heiko; Irvine, Alan D.; Healy, Eugene; Birch-Machin, Mark; Rees, Jonathan L.; Messenger, Andrew G.; Holmes, Susan C.; Parry, David A. D.; Munro, Colin S. // Journal of Investigative Dermatology; Oct99, Vol. 113 Issue 4, p607
Monilethrix is an hereditary hair dystrophy recently shown to be due to mutations in the helix termination motif of two type II (basic) human hair keratin genes, hHb1 and hHb6. It has been suggested that mutation in hHb1 produces a less severe phenotype. We have studied hair keratin genes and...
- Comparative Mutation Detection Screening of the Type VII Collagen Gene (COL7A1) Using the Protein Truncation Test, Fluorescent Chemical Cleavage of Mismatch, and Conformation Sensitive Gel Electrophoresis.
Whittock, Neil V.; Ashton, Gabrielle H. S.; Mohammedi, Rafik; Mellerio, Jemima E.; Mathew, Christopher G.; Abbs, Stephen J.; Eady, Robin A. J.; McGrath, John A. // Journal of Investigative Dermatology; Oct99, Vol. 113 Issue 4, p673
Mutations in the type VII collagen gene, COL7A1, give rise to the blistering skin disease, dystrophic epidermolysis bullosa. We have developed two new mutation detection strategies for the screening of COL7A1 mutations in patients with dystrophic epidermolysis bullosa and compared them with an...
- Atrichia with Papular Lesions Resulting from a Nonsense Mutation Within the Human Hairless Gene.
Sprecher, Eli; Lestringant, Gilles G.; Szargel, Raymonde; Bergman, Reuven; Labay, Valentina; Frossard, Philippe M.; Friedman-Birnbaum, Rachel; Cohen, Nadine // Journal of Investigative Dermatology; Oct99, Vol. 113 Issue 4, p687
Atrichia with papular lesions is a rare autosomal recessive form of alopecia characterized by hair loss soon after birth and the development during childhood of a diffuse papular rash. We have previously shown that this disorder results from a deleterious mutation in the human hairless gene, a...
- Genomic technology: Recombination maps get personal.
Burgess, Darren J. // Nature Reviews Genetics; Sep2012, Vol. 13 Issue 9, p597
The article discusses research which used a single-cell augmentation approach for the generation on recombination maps, which references the study "Genome-wide single-cell analysis of recombination activity and de novo mutation rates in human sperm," by J. Wang and colleagues in the 2012 issue.
- The Effect of HFE Genotypes on Measurements of Iron Overload in Patients Attending a Health Appraisal Clinic.
Beutler, Ernest; Felitti, Vincent; Gelbart, Terri; Ho, Ngoc // Annals of Internal Medicine; 9/5/2000, Vol. 133 Issue 5, p329
Background: The gene that causes most cases of hereditary hemochromatosis is designated HFE. Three mutations exist at this locus at a relatively high gene frequency. Objective: To determine the gene frequency of the three HFE mutations and to relate genotypes to various clinical and laboratory...
Beutler, Ernest; Felitti, Vincent; Gelbart, Terri; Ho, Ngoc // Taber's Cyclopedic Medical Dictionary (2009); 2009, Issue 21, p1149
A definition of the term "idiovariation," which refers to a mutation that occurs without known cause, is presented.
- intermediate allele.
Beutler, Ernest; Felitti, Vincent; Gelbart, Terri; Ho, Ngoc // Taber's Cyclopedic Medical Dictionary (2009); 2009, Issue 21, p1215
A definition of the term "intermediate allele," which refers to premutation, is presented.
Beutler, Ernest; Felitti, Vincent; Gelbart, Terri; Ho, Ngoc // Taber's Cyclopedic Medical Dictionary (2009); 2009, Issue 21, p1770
A definition of the term "phenocopy," which refers to an individual with a biochemical or physical characteristic resembling something that is produced by a genetic mutation, is presented.
Beutler, Ernest; Felitti, Vincent; Gelbart, Terri; Ho, Ngoc // Taber's Cyclopedic Medical Dictionary (2009); 2009, Issue 21, p2030
A definition of the term "revertant" which refers to an organism that has reverted to a prior phenotype by means of mutation is presented.