Works matching Chromosome mutation

Results: 3426

Cannabis Extract Treatment for Terminal Acute Lymphoblastic Leukemia with a Philadelphia Chromosome Mutation.

Published in:

Case Reports in Oncology, 2013, v. 6, n. 3, p. 585, doi. 10.1159/000356446

By:

Singh, Yadvinder;
Bali, Chamandeep

Publication type:

Article

Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome.

Published in:

Clinical Genetics, 2011, v. 80, n. 5, p. 478, doi. 10.1111/j.1399-0004.2010.01599.x

By:

Sasaki, K;
Okamoto, N;
Kosaki, K;
Yorifuji, T;
Shimokawa, O;
Mishima, H;
Yoshiura, K-i;
Harada, N

Publication type:

Article

Cytogenetic significance of chromosome 17 aberrations and P53 gene mutations as prognostic markers in oral squamous cell carcinoma.

Published in:

Diagnostic Pathology, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13000-015-0232-1

By:

Zedan, Walid;
Mourad, Mohamed I.;
Abd El-Aziz, Sherin M.;
Salamaa, Nagla M.;
Shalaby, Asem A.

Publication type:

Article

Chromosome alterations and E-cadherin gene mutations in human lobular breast cancer.

Published in:

British Journal of Cancer, 1999, v. 81, n. 7, p. 1103, doi. 10.1038/sj.bjc.6690815

By:

Huiping, C;
Sigurgeirsdottir, J R;
Jonasson, J G;
Eiriksdottir, G;
Johannsdottir, J T;
Egilsson, V;
Ingvarsson, S

Publication type:

Article

Rapid gynogenetic mapping of Xenopus tropicalis mutations to chromosomes.

Published in:

Developmental Dynamics, 2009, v. 238, n. 6, p. 1398, doi. 10.1002/dvdy.21965

By:

Khokha, Mustafa K.;
Krylov, Vladimir;
Reilly, Michael J.;
Gall, Joseph G.;
Bhattacharya, Dipankan;
Cheung, Chung Yan J.;
Kaufman, Sarah;
Lam, Dang Khoa;
Macha, Jaroslav;
Ngo, Catherine;
Prakash, Neha;
Schmidt, Philip;
Tlapakova, Tereza;
Trivedi, Toral;
Tumova, Lucie;
Abu-Daya, Anita;
Geach, Timothy;
Vendrell, Elisenda;
Ironfield, Holly;
Sinzelle, Ludivine

Publication type:

Article

A new Drosophila melanogaster research resource: CRISPR-induced mutations for clonal analysis of fourth chromosome genes.

Published in:

G3: Genes | Genomes | Genetics, 2025, v. 15, n. 3, p. 1, doi. 10.1093/g3journal/jkaf006

By:

Weasner, Bonnie M;
Weasner, Brandon P;
Cook, Kevin R;
Stinchfield, Michael J;
Kondo, Shu;
Saito, Kuniaki;
Kumar, Justin P;
Newfeld, Stuart J

Publication type:

Article

Identification and Characterization of Breakpoints and Mutations on Drosophila melanogaster Balancer Chromosomes.

Published in:

G3: Genes | Genomes | Genetics, 2020, v. 10, n. 11, p. 4271, doi. 10.1534/g3.120.401559

By:

Miller, Danny E.;
Kahsai, Lily;
Buddika, Kasun;
Dixon, Michael J.;
Kim, Bernard Y.;
Calvi, Brian R.;
Sokol, Nicholas S.;
Hawley, R. Scott;
Cook, Kevin R.

Publication type:

Article

Estimating Y Chromosome Specific Microsatellite Mutation Frequencies using Deep Rooting Pedigrees.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 799, doi. 10.1093/hmg/6.5.799

By:

Heyer, Evelyne;
Puymirat, Jack;
Dieltjes, Patrick;
Bakker, Egbert;
de Knijff, Peter

Publication type:

Article

Pleomorphic mastocytoma associated with loss of chromosome 5, PDGFRA, and HRAS mutations: A case of cutaneous mastocytosis with severe atypia and indolent behavior.

Published in:

Journal of Cutaneous Pathology, 2021, v. 48, n. 1, p. 116, doi. 10.1111/cup.13868

By:

Tirado, Mariantonieta;
Dobin, Sheila M.;
Fernandez, Martin P.;
Rao, Arundhati

Publication type:

Article

Pleiotropic effect of chromosome 5A and the mvp mutation on the metabolite profile during cold acclimation and the vegetative/generative transition in wheat.

Published in:

BMC Plant Biology, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12870-014-0363-7

By:

Juhász, Zsófia;
Boldizsár, Ákos;
Nagy, Tibor;
Kocsy, Gábor;
Marincs, Ferenc;
Galiba, Gábor;
Bánfalvi, Zsófia

Publication type:

Article

Mutation Rate Variability across Human Y-Chromosome Haplogroups.

Published in:

Molecular Biology & Evolution, 2021, v. 38, n. 3, p. 1000, doi. 10.1093/molbev/msaa268

By:

Ding, Qiliang;
Hu, Ya;
Koren, Amnon;
Clark, Andrew G

Publication type:

Article

Mitochondrial mutations may drive Y chromosome evolution.

Published in:

BioEssays, 2002, v. 24, n. 3, p. 275, doi. 10.1002/bies.10062

By:

Gemmell, Neil J.;
Sin, Frank Y. T.

Publication type:

Article

Overexpression of PSAT1 Gene is a Favorable Prognostic Marker in Lower-Grade Gliomas and Predicts a Favorable Outcome in Patients with IDH1 Mutations and Chromosome 1p19q Codeletion.

Published in:

Cancers, 2020, v. 12, n. 1, p. 13, doi. 10.3390/cancers12010013

By:

Huang, Shang-Pen;
Chan, Yung-Chieh;
Huang, Shang-Yu;
Lin, Yuan-Feng

Publication type:

Article

Amelogenesis Imperfecta in a New Animal Model-a Mutation in Chromosome 5 (human 4q21).

Published in:

Journal of Dental Research, 2004, v. 83, n. 8, p. 608, doi. 10.1177/154405910408300805

By:

Seedorf, H.;
Springer, I. N.;
Grundner-Culemann, E.;
Albers, H.-K.;
Reis, A.;
Fuchs, H.;
Hrabe de Angelis, M.;
Açil, Y.

Publication type:

Article

Simple generation of site-directed point mutations in the Escherichia coli chromosome using Red/ET Recombination.

Published in:

Microbial Cell Factories, 2008, v. 7, p. 1, doi. 10.1186/1475-2859-7-14

By:

Heermann, Ralf;
Zeppenfeld, Tim;
Jung, Kirsten

Publication type:

Article

Altered expression of testis-specific genes, piRNAs, and transposons in the silkworm ovary masculinized by a W chromosome mutation.

Published in:: BMC Genomics, 2012, v. 13, n. 1, p. 119, doi. 10.1186/1471-2164-13-119
Publication type:: Article

A Mosaic PHEX Variant in Hypophosphatemic Rickets: Distinguishing Postzygotic Mutation from Sex Chromosome Aneuploidy.

Published in:

2025

By:

Lim, Wu Tzen;
Nenke, Marni;
Rawlings, Lesley;
Wells, Amanda;
Vakulin, Cassandra;
Waters, Wendy;
De Sousa, Sunita

Publication type:

Case Study

Evidence for a selectively favourable reduction in the mutation rate of the X chromosome.

Published in:

Nature, 1997, v. 386, n. 6623, p. 388, doi. 10.1038/386388a0

By:

McVean, Gilean T.;
Hurst, Laurence D.

Publication type:

Article

The B chromosome polymorphism of the grasshopper Eyprepocnemis plorans in North Africa: III. Mutation rate of B chromosomes.

Published in:

Heredity, 2004, v. 92, n. 5, p. 428, doi. 10.1038/sj.hdy.6800437

By:

Bakkali, M.;
Camacho, J.P.M.

Publication type:

Article

Combined De-Novo Mutation and Non-Random X-Chromosome Inactivation Causing Wiskott-Aldrich Syndrome in a Female with Thrombocytopenia.

Published in:

Journal of Clinical Immunology, 2013, v. 33, n. 7, p. 1150, doi. 10.1007/s10875-013-9927-9

By:

Boonyawat, Boonchai;
Dhanraj, Santhosh;
Abbas, Fahad;
Zlateska, Bozana;
Grunenbaum, Eyal;
Roifman, Chaim;
Steele, Leslie;
Meyn, Stephen;
Blanchette, Victor;
Scherer, Stephen;
Swierczek, Sabina;
Prchal, Josef;
Zhu, Qili;
Torgerson, Troy;
Ochs, Hans;
Dror, Yigal

Publication type:

Article

Aneuploidy of chromosome 8 and mutation of circulating tumor cells predict pathologic complete response in the treatment of locally advanced rectal cancer.

Published in:

Oncology Letters, 2018, v. 16, n. 2, p. 1863, doi. 10.3892/ol.2018.8831

By:

Wan, Jue-FENg;
Li, Xue-Qin;
Zhang, Jing;
Yang, Li-FENg;
Zhu, Ji;
Li, Gui-Chao;
Liang, Li-Ping;
ShEN, Li-Jun;
Zhang, Hui;
Li, Jing;
Zhang, Yi-Tong;
ChEN, Chang-Yue;
Zhang, ZhEN

Publication type:

Article

Analysis of Y chromosome microdeletions and CFTR gene mutations as genetic markers of infertility in Serbian men.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2007, v. 64, n. 4, p. 253, doi. 10.2298/VSP0704253D

By:

Dinić, Jelena;
Kušić, Jelena;
Nikolić, Aleksandra;
Divac, Aleksandra;
Ristanović, Momčilo;
Radojković, Dragica

Publication type:

Article

Two mouse mutations mapped to chromosome 11 with differing morphologies but similar progressive inflammatory alopecia.

Published in:

Experimental Dermatology, 2005, v. 14, n. 5, p. 373, doi. 10.1111/j.1600-0625.2005.00291.x

By:

Wood, Geoffrey A.;
Flenniken, Ann;
Osborne, Lucy;
Fleming, Craig;
Vukobradovic, Igor;
Morikawa, Lily;
Qiang Xu;
Porter, Rebecca;
Adamson, S. Lee;
Rossant, Janet;
McKerlie, Colin

Publication type:

Article

Increase in viability due to the accumulation of X chromosome mutations in Drosophila melanogaster males.

Published in:

Genetica, 2018, v. 146, n. 3, p. 323, doi. 10.1007/s10709-018-0023-1

By:

Woodruff, Ronny C.;
Balinski, Michael A.

Publication type:

Article

Loss of chromosome 18q and DPC4 (Smad4) mutations in appendiceal adenocarcinomas.

Published in:

Oncogene, 2004, v. 23, n. 3, p. 859, doi. 10.1038/sj.onc.1207194

By:

Maru, Dipen;
Tsung-Teh Wu;
Canada, Amanda;
Houlihan, Patrick S.;
Hamilton, Stanley R.;
Rashid, Asif

Publication type:

Article

Effect of Chromosome Location on Bacterial Mutation Rates.

Published in:

Molecular Biology & Evolution, 2002, v. 19, n. 1, p. 85, doi. 10.1093/oxfordjournals.molbev.a003986

By:

Hudson, Richard Ellis;
Bergthorsson, Ulfar;
Roth, John R.;
Ochman, Howard

Publication type:

Article

Analysis of the differences in immune indexes of common gene mutations and 5q- chromosome karyotype mutations in MDS.

Published in:

Discover Oncology, 2025, v. 16, n. 1, p. 1, doi. 10.1007/s12672-025-02845-0

By:

Zheng, Hanxue;
Meng, Zilu;
Zhang, Liansheng;
Li, Lijuan

Publication type:

Article

The insulin-like growth factor 2 (IGF2) gene intron3-g.3072G>A polymorphism is not the only Sus scrofa chromosome 2p mutation affecting meat production and carcass traits in pigs: Evidence from the effects of a cathepsin D (CTSD) gene polymorphism'

Published in:

Journal of Animal Science, 2010, v. 88, n. 7, p. 2235, doi. 10.2527/jas.2009-2560

By:

Fontanesi, L.;
Speroni, C.;
Buttazzoni, L.;
Scotti, E.;
Dall'Olio, S.;
Costa, Nanni L.;
Davoli, R.;
Russo, V.

Publication type:

Article

Polydactyly mutation is linked with chromosome 2p region in Beijing fatty chicken.

Published in:

Animal Genetics, 2013, v. 44, n. 1, p. 118, doi. 10.1111/j.1365-2052.2012.02369.x

By:

Yang, K.;
Chen, Y.;
Gu, C.;
Zhou, Z.;
He, C.;
Tang, L.;
Li, S.;
Zhao, L.;
Meng, H.;
Huang, Q.

Publication type:

Article

Linkage of loci associated with two pigment mutations on mouse chromosome 13.

Published in:

Genetics Research, 1991, v. 58, n. 1, p. 41, doi. 10.1017/S0016672300029591

By:

Holcombe, Randall F.;
Stephenson, Dennis A.;
Zweidler, Alfred;
Stewart, Ruby M.;
Chapman, Verne M.;
Seidman, J. G.

Publication type:

Article

The influence of mutations on chromosome 17 upon the segregation of homologues in female mice heterozygous for Robertsonian translocations.

Published in:

Genetics Research, 1987, v. 50, n. 3, p. 235, doi. 10.1017/S0016672300023752

By:

Ruvinsky, A. O.;
Agulnik, S. I.;
Agulnik, A. I.;
Belyaev, D. K.

Publication type:

Article

The induction of gene mutation and chromosome aberration in Chlamydomonas eugametos by a phenylalanine analog.

Published in:

Genetics Research, 1969, v. 14, n. 2, p. 121, doi. 10.1017/S0016672300001956

By:

McBride, A. C.;
Gowans, C. S.

Publication type:

Article

Frontotemporal dementia with parkinsonism linked to chromosome 17 with the MAPT R406W mutation presenting with a broad distribution of abundant senile plaques.

Published in:

Neuropathology, 2015, v. 35, n. 1, p. 75, doi. 10.1111/neup.12154

By:

Ishida, Chiho;
Kobayashi, Katsuji;
Kitamura, Tatsuru;
Ujike, Hiroshi;
Iwasa, Kazuo;
Yamada, Masahito

Publication type:

Article

Frontotemporal dementia and parkinsonism linked to chromosome 17 with the N279K tau mutation.

Published in:

Neuropathology, 2007, v. 27, n. 1, p. 73, doi. 10.1111/j.1440-1789.2006.00742.x

By:

Slowinski, Jerzy;
Dominik, Jake;
Uitti, Ryan J.;
Ahmed, Zeshan;
Dickson, Dennis D.;
Wszolek, Zbigniew K.

Publication type:

Article

Genome and chromosome mutations in porphyria cutanea tarda.

Published in:

British Journal of Dermatology, 1981, v. 105, n. 2, p. 133, doi. 10.1111/j.1365-2133.1981.tb01197.x

By:

Lukanov, L.;
Tsoneva, M.;
Krachunova, M.;
Ivanov, E.;
Adjarov, D.

Publication type:

Article

Study of chromosome rearrangements associated with the trpE26 mutation ofBacillus subtilis.

Published in:

Molecular Microbiology, 2000, v. 36, n. 6, p. 1234, doi. 10.1046/j.1365-2958.2000.01939.x

By:

Regamey, Alexandre;
Lazarevic, Vladimir;
Hauser, Philippe;
Karamata, Dimitri

Publication type:

Article

LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 1, p. 85, doi. 10.1038/ejhg.2008.138

By:

Snozek, Christine L. H.;
Lagerstedt, Susan A.;
Khoo, Teck K.;
Rubenfire, Melvyn;
Isley, William L.;
Train, Laura J.;
Baudhuin, Linnea M.

Publication type:

Article

Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 6, p. 489, doi. 10.1038/sj.ejhg.5200969

By:

Osorio, Ana;
de la Hoya, Miguel;
Rodriguez-Lopez, Raquel;
Granizo, Juan Jose;
Diez, Orland;
Vega, Ana;
Duran, Mercedes;
Carracedo, Angel;
Baiget, Montserrat;
Caldes, Trinidad;
Benitez, Javier

Publication type:

Article

Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 1, p. 71, doi. 10.1038/sj.ejhg.5200354

By:

Mirzayans, Farideh;
Gould, Douglas B;
Héon, E;
Billingsley, Gail D;
Cheung, Jason C;
Mears, Alan J;
Walter, Michael A

Publication type:

Article

No evidence of BRCA2 mutations in chromosome 13q-linked Utah high-risk prostate cancer pedigrees.

Published in:

BMC Research Notes, 2009, v. 2, p. 1, doi. 10.1186/1756-0500-2-94

By:

Allen-Brady, Kristina;
Farnham, James M.;
Camp, Nicola J.;
Karlins, Eric;
Ostrander, Elaine A.;
Cannon-Albright, Lisa A.

Publication type:

Article

Recessive mutation on mouse chromosome 13 associated with abnormal hair texture and cardiomyopathy.

Published in:

Congenital Anomalies, 2023, v. 63, n. 6, p. 200, doi. 10.1111/cga.12540

By:

Suto, Jun‐ichi

Publication type:

Article

Uterine cellular leiomyomas are characterized by common HMGA2 aberrations, followed by chromosome 1p deletion and MED12 mutation: morphological, molecular, and immunohistochemical study of 52 cases.

Published in:

Virchows Archiv: European Journal of Pathology, 2022, v. 480, n. 2, p. 281, doi. 10.1007/s00428-021-03217-z

By:

Dundr, Pavel;
Gregová, Mária;
Hojný, Jan;
Krkavcová, Eva;
Michálková, Romana;
Němejcová, Kristýna;
Bártů, Michaela;
Hájková, Nikola;
Laco, Jan;
Mára, Michal;
Richtárová, Adéla;
Zima, Tomáš;
Stružinská, Ivana

Publication type:

Article

Identical Intragenic Microsatellite Haplotype Found in Cystic Fibrosis Chromosomes Bearing Mutation G551D in Irish, English, Scottish, Breton and Czech Patients.

Published in:

Human Heredity, 1995, v. 45, n. 1, p. 6, doi. 10.1159/000154249

By:

Cashman, S.M.;
Patino, A.;
Martinez, A.;
Garcia-Delgado, M.;
Miedzybrodzka, Z.;
Schwarz, M.;
Shrimpton, A.;
Ferec, C.;
Raguenes, O.;
Macek, Jr., M.;
Morral, N.;
De Arce, M.

Publication type:

Article

Peculiarities of Mutation Process in X Chromosome of Drosophila melanogaster Z<sup>3314</sup> Line from Zvenigorodka (Ukraine) Natural Population.

Published in:

Russian Journal of Genetics, 2018, v. 54, n. 2, p. 157, doi. 10.1134/S1022795418020114

By:

Koromyslov, Yu. A.;
Ilinsky, Yu. Yu.;
Ivannikov, A. V.;
Zakharov, I. K.

Publication type:

Article

The Study of Joint Inheritance of Mutations Impairing the Structure of Meiotic Chromosomes in Rye Secale cereale L.

Published in:

Russian Journal of Genetics, 2003, v. 39, n. 6, p. 649, doi. 10.1023/A:1024453709669

By:

Sosnikhina, S.P.;
Kirillova, G.A.;
Priyatkina, S.N.;
Mikhailova, E.I.;
Tikholiz, O.A.;
Smirnov, V.G.

Publication type:

Article

An Analysis of Genetic Risk Factors (Chromosomes 3 and 9) and Mutation of Spike COVID-19 in the Severity and Transmission Factor.

Published in:

Journal of International Dental & Medical Research, 2022, v. 15, n. 2, p. 885

By:

Anwari, Farida;
Setiawan, Fery;
Nurdianto, Arif Rahman;
Budhy, Theresia Indah;
Tena, Heribertus A. B.;
Puspitasari, Heni

Publication type:

Article

Discordant Semilobar Holoprosencephaly in Monozygotic Twins with de novo inv dup(15) Marker Chromosome and de novo Mutation on SHH Gene.

Published in:

Fetal Diagnosis & Therapy, 2007, v. 22, n. 5, p. 389, doi. 10.1159/000103302

By:

Hsiu-Huei Peng;
Pao-Lin Kuo;
An-Shine Chao;
Tzu-Hao Wang;
Yao-Lung Chang;
Yung-Kuei Soong;
Shuenn-Dyh Chang

Publication type:

Article

Mapping of mutation causing Friedreich's ataxia to human chromosome 9.

Published in:

Nature, 1988, v. 334, n. 6179, p. 248, doi. 10.1038/334248a0

By:

Chamberlain, Susan;
Shaw, Jacqui;
Rowland, Alison;
Wallis, Julie;
South, Sally;
Nakamura, Yusuke;
von Gabain, Alexander;
Farrall, Martin;
Williamson, Robert

Publication type:

Article

109 A mutation at chromosome 7q22.3-33.1 can lead to autosomal-dominant dilated cardiomyopathy

Published in:: 2005
Publication type:: Abstract

Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: lessons from Costello syndrome.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 4, p. 374, doi. 10.1093/hmg/ddl458

By:

Kratz, Christian P.;
Steinemann, Doris;
Niemeyer, Charlotte M.;
Schlegelberger, Brigitte;
Koscielniak, Ewa;
Kontny, Udo;
Zenker, Martin

Publication type:

Article