AURKC c.145del ;(p.L49Wfs*23)

Variant ID: 19-57743437-TC-T

NM_001015878.1(AURKC):c.145del;(p.L49Wfs*23)

This variant was identified in 26 publications

View GRCh38 version.




Publications:


Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening.

Genes
Avnat, Eden E; Shapira, Guy G; Shoval, Shelly S; Israel-Elgali, Ifat I; Alkelai, Anna A; Shuldiner, Alan R AR; Gonzaga-Jauregui, Claudia C; Zidan, Jamal J; Maray, Taiseer T; Shomron, Noam N; Friedman, Eitan E
Publication Date: 2023-04-18

Variant appearance in text: AURKC: 145del; Leu49fs
PubMed Link: 37107695
Variant Present in the following documents:
  • genes-14-00937.pdf
View BVdb publication page



Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders.

Frontiers In Cell And Developmental Biology
Colin, Estelle E; Duffourd, Yannis Y; Chevarin, Martin M; Tisserant, Emilie E; Verdez, Simon S; Paccaud, Julien J; Bruel, Ange-Line AL; Tran Mau-Them, Frédéric F; Denommé-Pichon, Anne-Sophie AS; Thevenon, Julien J; Safraou, Hana H; Besnard, Thomas T; Goldenberg, Alice A; Cogné, Benjamin B; Isidor, Bertrand B; Delanne, Julian J; Sorlin, Arthur A; Moutton, Sébastien S; Fradin, Mélanie M; Dubourg, Christèle C; Gorce, Magali M; Bonneau, Dominique D; El Chehadeh, Salima S; Debray, François-Guillaume FG; Doco-Fenzy, Martine M; Uguen, Kevin K; Chatron, Nicolas N; Aral, Bernard B; Marle, Nathalie N; Kuentz, Paul P; Boland, Anne A; Olaso, Robert R; Deleuze, Jean-François JF; Sanlaville, Damien D; Callier, Patrick P; Philippe, Christophe C; Thauvin-Robinet, Christel C; Faivre, Laurence L; Vitobello, Antonio A
Publication Date: 2023

Variant appearance in text: AURKC: Leu49Trpfs*23
PubMed Link: 36926521
Variant Present in the following documents:
  • Main text
  • fcell-11-1021920.pdf
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Deleterious variants in TAF7L cause human oligoasthenoteratozoospermia and its impairing histone to protamine exchange inducing reduced in vitro fertilization.

Frontiers In Endocrinology
Bai, Haowei H; Sha, Yanwei Y; Tan, Yueqiu Y; Li, Peng P; Zhang, Yuxiang Y; Xu, Junwei J; Xu, Shuai S; Ji, Zhiyong Z; Wang, Xiaobo X; Chen, Wei W; Zhang, Jianxiong J; Yao, Chencheng C; Li, Zheng Z; Zhi, Erlei E
Publication Date: 2022

Variant appearance in text: AURKC: 144delC
PubMed Link: 36714566
Variant Present in the following documents:
  • fendo-13-1099270.pdf
View BVdb publication page



The genetic causes of male infertility: a Middle East and North Africa perspective.

F1000Research
Duvuru, Ruthwik R; Halabi, Mouhammad M; Omolaoye, Temidayo S TS; Du Plessis, Stefan S SS
Publication Date: 2022

Variant appearance in text: AURKC: 144delC
PubMed Link: 36405559
Variant Present in the following documents:
  • Main text
  • f1000research-11-134493.pdf
View BVdb publication page



What advances may the future bring to the diagnosis, treatment, and care of male sexual and reproductive health?

Fertility And Sterility
Barratt, Christopher L R CLR; Wang, Christina C; Baldi, Elisabetta E; Toskin, Igor I; Kiarie, James J; Lamb, Dolores J DJ; ,
Publication Date: 2022-02

Variant appearance in text: AURKC: 144delC
PubMed Link: 35125173
Variant Present in the following documents:
  • Main text
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: AURKC: 142delC
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Evaluation of a Custom Design Gene Panel as a Diagnostic Tool for Human Non-Syndromic Infertility.

Genes
Okutman, Ozlem O; Tarabeux, Julien J; Muller, Jean J; Viville, Stéphane S
Publication Date: 2021-03-12

Variant appearance in text: AURKC: 144delC; Leu49TrpfsTer23
PubMed Link: 33809228
Variant Present in the following documents:
  • Main text
  • genes-12-00410-s001.pdf
  • genes-12-00410.pdf
View BVdb publication page



Purging human ovarian cortex of contaminating leukaemic cells by targeting the mitotic catastrophe signalling pathway.

Journal Of Assisted Reproduction And Genetics
Eijkenboom, Lotte L; Mulder, Callista C; van der Reijden, Bert B; van Mello, Norah N; van Leersum, Julia J; Koorenhof-Scheele, Thessa T; Braat, Didi D; Beerendonk, Catharina C; Peek, Ronald R
Publication Date: 2021-06

Variant appearance in text: AURKC: 144delC
PubMed Link: 33725274
Variant Present in the following documents:
  • 10815_2021_Article_2081.pdf
View BVdb publication page



The Role of Genetics and Oxidative Stress in the Etiology of Male Infertility-A Unifying Hypothesis?

Frontiers In Endocrinology
Aitken, Robert John RJ; Baker, Mark A MA
Publication Date: 2020

Variant appearance in text: AURKC: 144delC
PubMed Link: 33101214
Variant Present in the following documents:
  • Main text
  • fendo-11-581838.pdf
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: AURKC: 145delC; Leu49fs
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



The evolving role of genetic tests in reproductive medicine.

Journal Of Translational Medicine
Cariati, Federica F; D'Argenio, Valeria V; Tomaiuolo, Rossella R
Publication Date: 2019-08-14

Variant appearance in text: AURKC: 144delC
PubMed Link: 31412890
Variant Present in the following documents:
  • Main text
  • 12967_2019_Article_2019.pdf
View BVdb publication page



Whole-exome sequencing identified a novel mutation of AURKC in a Chinese family with macrozoospermia.

Journal Of Assisted Reproduction And Genetics
Hua, Juan J; Wan, Yang-Yang YY
Publication Date: 2019-03

Variant appearance in text: AURKC: 144delC
PubMed Link: 30594972
Variant Present in the following documents:
  • Main text
  • 10815_2018_Article_1374.pdf
View BVdb publication page



Genetic evaluation of patients with non-syndromic male infertility.

Journal Of Assisted Reproduction And Genetics
Okutman, Ozlem O; Rhouma, Maroua Ben MB; Benkhalifa, Moncef M; Muller, Jean J; Viville, Stéphane S
Publication Date: 2018-11

Variant appearance in text: AURKC: 144delC
PubMed Link: 30259277
Variant Present in the following documents:
  • Main text
View BVdb publication page



Autosomal single-gene disorders involved in human infertility.

Saudi Journal Of Biological Sciences
Jedidi, Ines I; Ouchari, Mouna M; Yin, Qinan Q
Publication Date: 2018-07

Variant appearance in text: AURKC: 144delC
PubMed Link: 30108436
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Genetics and genomic medicine in Morocco: the present hope can make the future bright.

Molecular Genetics & Genomic Medicine
Belhassan, Khadija K; Ouldim, Karim K; Sefiani, Abdel Aziz AA
Publication Date: 2016-11

Variant appearance in text: AURKC: 144delC
PubMed Link: 27896281
Variant Present in the following documents:
  • Main text
  • MGG3-4-588.pdf
View BVdb publication page



Is intracouple assisted reproductive technology an option for men with large-headed spermatozoa? A literature review and a decision guide proposal.

Basic And Clinical Andrology
Guthauser, Bruno B; Pollet-Villard, Xavier X; Boitrelle, Florence F; Vialard, Francois F
Publication Date: 2016

Variant appearance in text: AURKC: 144delC
PubMed Link: 27398217
Variant Present in the following documents:
  • Main text
  • 12610_2016_Article_35.pdf
View BVdb publication page



Functions of Aurora kinase C in meiosis and cancer.

Frontiers In Cell And Developmental Biology
Quartuccio, Suzanne M SM; Schindler, Karen K
Publication Date: 2015

Variant appearance in text: AURKC: 144delC
PubMed Link: 26347867
Variant Present in the following documents:
  • Main text
View BVdb publication page



Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population.

Journal Of Assisted Reproduction And Genetics
Ghédir, Houda H; Gribaa, Moez M; Mamaî, Ons O; Ben Charfeddine, Ilhem I; Braham, Asma A; Amara, Abdelbasset A; Mehdi, Meriem M; Saad, Ali A; Ibala-Romdhane, Samira S
Publication Date: 2015-11

Variant appearance in text: AURKC: 144delC
PubMed Link: 26341096
Variant Present in the following documents:
  • Main text
View BVdb publication page



Expression and characterization of three Aurora kinase C splice variants found in human oocytes.

Molecular Human Reproduction
Fellmeth, Jessica E JE; Gordon, Derek D; Robins, Christian E CE; Scott, Richard T RT; Treff, Nathan R NR; Schindler, Karen K
Publication Date: 2015-08

Variant appearance in text: AURKC: 144delC
PubMed Link: 25995441
Variant Present in the following documents:
  • gav026.pdf
View BVdb publication page



Genetic aspects of monomorphic teratozoospermia: a review.

Journal Of Assisted Reproduction And Genetics
De Braekeleer, Marc M; Nguyen, Minh Huong MH; Morel, Frédéric F; Perrin, Aurore A
Publication Date: 2015-04

Variant appearance in text: AURKC: 144delC
PubMed Link: 25711835
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men.

Asian Journal Of Andrology
Ounis, Leyla L; Zoghmar, Abdelali A; Coutton, Charles C; Rouabah, Leila L; Hachemi, Maroua M; Martinez, Delphine D; Martinez, Guillaume G; Bellil, Ines I; Khelifi, Douadi D; Arnoult, Christophe C; Fauré, Julien J; Benbouhedja, Sebti S; Rouabah, Abdelkader A; Ray, Pierre F PF
Publication Date: 2015

Variant appearance in text: AURKC: 144delC
PubMed Link: 25219909
Variant Present in the following documents:
  • Main text
  • AJA-17-68.pdf
View BVdb publication page



Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.

Orphanet Journal Of Rare Diseases
Romdhane, Lilia L; Kefi, Rym R; Azaiez, Hela H; Ben Halim, Nizar N; Dellagi, Koussay K; Abdelhak, Sonia S
Publication Date: 2012-08-21

Variant appearance in text: AURKC: 144delC
PubMed Link: 22908982
Variant Present in the following documents:
  • 1750-1172-7-52-S2.xlsx, sheet 1
View BVdb publication page



Mitotic Kinases and p53 Signaling.

Biochemistry Research International
Ha, Geun-Hyoung GH; Breuer, Eun-Kyoung Yim EK
Publication Date: 2012

Variant appearance in text: STK13: 144delC
PubMed Link: 22852086
Variant Present in the following documents:
  • Main text
View BVdb publication page



Male infertility and its causes in human.

Advances In Urology
Miyamoto, Toshinobu T; Tsujimura, Akira A; Miyagawa, Yasushi Y; Koh, Eitetsu E; Namiki, Mikio M; Sengoku, Kazuo K
Publication Date: 2012

Variant appearance in text: AURKC: 144delC
PubMed Link: 22046184
Variant Present in the following documents:
  • Main text
  • AU2012-384520.pdf
View BVdb publication page



A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis.

Molecular Human Reproduction
Ben Khelifa, Mariem M; Zouari, Raoudha R; Harbuz, Radu R; Halouani, Lazhar L; Arnoult, Christophe C; Lunardi, Joël J; Ray, Pierre F PF
Publication Date: 2011-12

Variant appearance in text: AURKC: 144delC
PubMed Link: 21733974
Variant Present in the following documents:
  • Main text
View BVdb publication page



Aurora-C kinase deficiency causes cytokinesis failure in meiosis I and production of large polyploid oocytes in mice.

Molecular Biology Of The Cell
Yang, Kuo-Tai KT; Li, Shu-Kuei SK; Chang, Chih-Chieh CC; Tang, Chieh-Ju C CJ; Lin, Yi-Nan YN; Lee, Sheng-Chung SC; Tang, Tang K TK
Publication Date: 2010-07-15

Variant appearance in text: AurC: 144delC
PubMed Link: 20484572
Variant Present in the following documents:
  • Main text
  • zmk2371.pdf
View BVdb publication page