Works matching Chromosome mutation

Results: 3399

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1...

Published in:

Nature, 1995, v. 376, n. 6543, p. 775, doi. 10.1038/376775a0

By:

Rogaev, E.I.;
Sherrington, R.

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

The C250T Mutation of TERTp Might Grant a Better Prognosis to Glioblastoma by Exerting Less Biological Effect on Telomeres and Chromosomes Than the C228T Mutation.

Published in:

Cancers, 2024, v. 16, n. 4, p. 735, doi. 10.3390/cancers16040735

By:

Gorria, Teresa;
Crous, Carme;
Pineda, Estela;
Hernandez, Ainhoa;
Domenech, Marta;
Sanz, Carolina;
Jares, Pedro;
Muñoz-Mármol, Ana María;
Arpí-Llucía, Oriol;
Melendez, Bárbara;
Gut, Marta;
Esteve, Anna;
Esteve-Codina, Anna;
Parra, Genis;
Alameda, Francesc;
Carrato, Cristina;
Aldecoa, Iban;
Mallo, Mar;
de la Iglesia, Nuria;
Balana, Carmen

Publication type:

Article

بررسی ریزحذف‌های کروموزوم Yو جهش در اگزون 7 ژنSTAG3 در مردان نابارور ایرانی مبتلا به آزواسپرمی غیرانسدادی ایدیوپاتیک

Published in:

Arak Medical University Journal, 2016, v. 19, n. 6, p. 19

By:

پوریامنش, سارا;
کمالیان, زیبا;
شفاعت, پدرام;
بیدختی, مونا امین;
سلسبیلی, ناصر;
میرفخرایی, رضا

Publication type:

Article

Analysis of the Parental Origin of De Novo MECP2 Mutations and X Chromosome Inactivation in 24 Sporadic Patients With Rett Syndrome in China.

Published in:

Journal of Child Neurology, 2010, v. 25, n. 7, p. 842, doi. 10.1177/0883073809350722

By:

Xingwang Zhu;
Meirong Li;
Hong Pan;
Xinhua Bao;
Jingjing Zhang;
Xiru Wu

Publication type:

Article

Chromosome 8 inversion mutation in congenital generalized hypertrichosis: localization of precise breakpoints.

Published in:

British Journal of Dermatology, 2025, v. 192, p. 355, doi. 10.1093/bjd/ljae383

By:

Zhao, Anqi;
Cao, Qiaoyu;
Pan, Chaolan;
Wang, Xiaoxiao;
Wang, Yumeng;
Li, Ming

Publication type:

Article

Mutation Rates across Budding Yeast Chromosome VI Are Correlated with Replication Timing.

Published in:

Genome Biology & Evolution, 2011, v. 3, p. 799, doi. 10.1093/gbe/evr054

By:

Lang, Gregory I.;
Murray, Andrew W.

Publication type:

Article

Experimental mutation-accumulation on the X chromosome of Drosophila melanogaster reveals stronger selection on males than females.

Published in:

BMC Evolutionary Biology, 2011, v. 11, n. 1, p. 156, doi. 10.1186/1471-2148-11-156

By:

Mallet, Martin A.;
Bouchard, Jessica M.;
Kimber, Christopher M.;
Chippindale, Adam K.

Publication type:

Article

On the evolutionary mutation rate at Y-chromosome STRs: comments on paper by Di Giacomo et al. (2004).

Published in:

2005

By:

Zhivotovsky, Lev A.;
Underhill, Peter A.

Publication type:

Letter

Genomic structure of karyopherin α2 (KPNA2) within a low-copy repeat on chromosome 17q23-q24 and mutation analysis in patients with Russell-Silver syndrome.

Published in:

Human Genetics, 2001, v. 109, n. 5, p. 479, doi. 10.1007/s004390100605

By:

Dörr, Sylvia;
Schlicker, Mike;
Hansmann, Ingo

Publication type:

Article

Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum.

Published in:

Human Genetics, 2001, v. 109, n. 3, p. 356, doi. 10.1007/s004390100582

By:

Pulkkinen, Leena;
Nakano, Aoi;
Ringpfeil, Franziska;
Uitto, Jouni

Publication type:

Article

SEX-CHROMOSOME TURNOVERS INDUCED BY DELETERIOUS MUTATION LOAD.

Published in:

Evolution, 2013, v. 67, n. 3, p. 635, doi. 10.1111/j.1558-5646.2012.01810.x

By:

Blaser, Olivier;
Grossen, Christine;
Neuenschwander, Samuel;
Perrin, Nicolas

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

LOH of chromosome 12p correlates with Kras2 mutation in non-small cell lung cancer.

Published in:

Oncogene, 2003, v. 22, n. 8, p. 1243, doi. 10.1038/sj.onc.1206192

By:

Li, Jie;
Zhang, Zhongqiu;
Dai, Zunyan;
Plass, Christoph;
Morrison, Carl;
Wang, Yian;
Wiest, Jonathan S;
Anderson, Marshall W;
You, Ming

Publication type:

Article

Allelic loss on chromosome 13q14 and mutation in deleted in cancer 1 gene in esophageal squamous cell carcinoma.

Published in:

Oncogene, 2003, v. 22, n. 2, p. 314, doi. 10.1038/sj.onc.1206098

By:

Li, Wen-Jun;
Hu, Nan;
Su, Hua;
Wang, Chaoyu;
Goldstein, Alisa M;
Wang, Yuan;
Emmert-Buck, Michael R;
Roth, Mark J;
Guo, Wen-Jie;
Taylor, Philip R

Publication type:

Article

Analysis of Mutation Rate of 17 Y-Chromosome Short Tandem Repeats Loci Using Tanzanian Father-Son Paired Samples.

Published in:

Genetics Research International, 2018, p. 1, doi. 10.1155/2018/8090469

By:

Bugoye, Fidelis Charles;
Mulima, Elias;
Misinzo, Gerald

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

Loss of heterozygosity on chromosome 13q12-q14, BRCA-2 mutations and lack of BRCA-2 promoter hypermethylation in sporadic epithelial ovarian tumors.

Published in:

2001

By:

Gras, Esther;
Cortes, Joan;
Diez, Orland;
Alonso, Carmen;
Matias-Guiu, Xavier;
Baiget, Montserrat;
Prat, Jaime;
Gras, E;
Cortes, J;
Diez, O;
Alonso, C;
Matias-Guiu, X;
Baiget, M;
Prat, J

Publication type:

journal article

Acquired uniparental isodisomies involving chromosome 12 in paediatric B‐cell precursor acute lymphoblastic leukaemia: Associations with chromosome 21 gains and SH2B3 mutations.

Published in:

British Journal of Haematology, 2023, v. 201, n. 3, p. 585, doi. 10.1111/bjh.18742

By:

Lundin‐Ström, Kristina B.;
Biloglav, Andrea;
Castor, Anders;
Olsson‐Arvidsson, Linda;
Johansson, Bertil

Publication type:

Article

The impacts of BCR-ABL1 mutations in patients with Philadelphia chromosome-positive acute lymphoblastic leukemia who underwent allogeneic hematopoietic cell transplantation.

Published in:

2020

By:

Tachibana, Takayoshi;
Najima, Yuho;
Akahoshi, Yu;
Hirabayashi, Shigeki;
Harada, Kaito;
Doki, Noriko;
Uchida, Naoyuki;
Fukuda, Takahiro;
Sawa, Masashi;
Ogata, Masao;
Takada, Satoru;
Tanaka, Masatsugu;
Matsuhashi, Yoshiko;
Tanaka, Junji;
Onizuka, Makoto;
Ichinohe, Tatsuo;
Atsuta, Yoshiko;
Kako, Shinichi;
Adult ALL Working Group of the Japan Society for Hematopoietic Cell Transplantation

Publication type:

journal article

Monosomal karyotype and chromosome 17p loss or TP53 mutations in decitabine-treated patients with acute myeloid leukemia.

Published in:

2020

By:

Becker, Heiko;
Pfeifer, Dietmar;
Ihorst, Gabriele;
Pantic, Milena;
Wehrle, Julius;
Rüter, Björn H.;
Bullinger, Lars;
Hackanson, Björn;
Germing, Ulrich;
Kuendgen, Andrea;
Platzbecker, Uwe;
Döhner, Konstanze;
Ganser, Arnold;
Hagemeijer, Anne;
Wijermans, Pierre W.;
Döhner, Hartmut;
Duyster, Justus;
Lübbert, Michael

Publication type:

journal 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

Chromosome Mutations and Chromosome Stability in Children Treated with Different Regimes of Immunosuppressive Drugs.

Published in:

Human Heredity, 1979, v. 29, n. 2, p. 100, doi. 10.1159/000153024

By:

Schuler, D.;
Dobos, M.;
Fekete, G.;
Miltényi, M.;
Kalmár, L.

Publication type:

Article

Toward a consensus on SNP and STR mutation rates on the human Y-chromosome.

Published in:

Human Genetics, 2017, v. 136, n. 5, p. 575, doi. 10.1007/s00439-017-1805-8

By:

Balanovsky, O.

Publication type:

Article

A genetic screen of the Drosophila Z chromosome for mutations that modify deformed function.

Published in:

Genetics, 1998, v. 150, n. 4, p. 1497, doi. 10.1093/genetics/150.4.1497

By:

Florence, Brian;
McGinnis, William

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