KL c.1767C>A ;(p.H589Q)

Variant ID: 13-33634983-C-A

NM_004795.3(KL):c.1767C>A;(p.H589Q)

This variant was identified in 20 publications

View GRCh38 version.




Publications:


Genetic Polymorphisms and Kidney Stones Around the Globe: A Systematic Review and Meta-Analysis.

Frontiers In Genetics
Mohammadi, Abdolreza A; Shabestari, Alireza Namazi AN; Baghdadabad, Leila Zareian LZ; Khatami, Fatemeh F; Reis, Leonardo Oliveira LO; Pishkuhi, Mahin Ahmadi MA; Kazem Aghamir, Seyed Mohammad SM
Publication Date: 2022

Variant appearance in text: rs564481
PubMed Link: 35846117
Variant Present in the following documents:
  • Main text
  • fgene-13-913908.pdf
View BVdb publication page



Association of serum Klotho levels with cancer and cancer mortality: Evidence from National Health and Nutrition Examination Survey.

Cancer Medicine
Qiao, Yating Y; Liu, Fubin F; Peng, Yu Y; Wang, Peng P; Ma, Bing B; Li, Limin L; Si, Changyu C; Wang, Xixuan X; Zhang, Ming M; Song, Fangfang F
Publication Date: 2022-07-16

Variant appearance in text: rs564481
PubMed Link: 35841322
Variant Present in the following documents:
  • Main text
  • CAM4-12-1922.pdf
View BVdb publication page



Searching for New Genetic Biomarkers of Axial Spondyloarthritis.

Journal Of Clinical Medicine
Bugaj, Bartosz B; Wielińska, Joanna J; Bogunia-Kubik, Katarzyna K; Świerkot, Jerzy J
Publication Date: 2022-05-20

Variant appearance in text: rs564481
PubMed Link: 35629038
Variant Present in the following documents:
  • Main text
  • jcm-11-02912.pdf
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MIF rs755622 and IL6 rs1800795 Are Implied in Genetic Susceptibility to End-Stage Renal Disease (ESRD).

Genes
Guarneri, Marco M; Scola, Letizia L; Giarratana, Rosa Maria RM; Bova, Manuela M; Carollo, Caterina C; Vaccarino, Loredana L; Calandra, Leonardo L; Lio, Domenico D; Balistreri, Carmela Rita CR; Cottone, Santina S
Publication Date: 2022-01-25

Variant appearance in text: rs564481
PubMed Link: 35205271
Variant Present in the following documents:
  • Main text
  • genes-13-00226.pdf
View BVdb publication page



KL-VS heterozygosity is associated with lower amyloid-dependent tau accumulation and memory impairment in Alzheimer's disease.

Nature Communications
Neitzel, Julia J; Franzmeier, Nicolai N; Rubinski, Anna A; Dichgans, Martin M; Brendel, Matthias M; , ; Malik, Rainer R; Ewers, Michael M
Publication Date: 2021-06-22

Variant appearance in text: rs564481
PubMed Link: 34158479
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_23755.pdf
View BVdb publication page



Molecular Mechanisms Associated with ROS-Dependent Angiogenesis in Lower Extremity Artery Disease.

Antioxidants (Basel, Switzerland)
Hutchings, Greg G; Kruszyna, Łukasz Ł; Nawrocki, Mariusz J MJ; Strauss, Ewa E; Bryl, Rut R; Spaczyńska, Julia J; Perek, Bartłomiej B; Jemielity, Marek M; Mozdziak, Paul P; Kempisty, Bartosz B; Nowicki, Michał M; Krasiński, Zbigniew Z
Publication Date: 2021-05-07

Variant appearance in text: rs564481
PubMed Link: 34066926
Variant Present in the following documents:
  • Main text
  • antioxidants-10-00735.pdf
View BVdb publication page



Klotho (rs1207568 and rs564481) gene variants and colorectal cancer risk.

The Turkish Journal Of Gastroenterology : The Official Journal Of Turkish Society Of Gastroenterology
Kamal, Asmaa A; Salama, Mohamed M; Kamal, Amr A; Mohsen, Ahmed A; Siam, Ibrahem I
Publication Date: 2020-07

Variant appearance in text: rs564481
PubMed Link: 32897222
Variant Present in the following documents:
  • Main text
View BVdb publication page



The association between Single Nucleotide Polymorphisms of Klotho Gene and Mortality in Elderly Men: The MrOS Sweden Study.

Scientific Reports
Wu, Ping-Hsun PH; Westerberg, Per-Anton PA; Kindmark, Andreas A; Tivesten, Åsa Å; Karlsson, Magnus K MK; Mellström, Dan D; Ohlsson, Claes C; Fellström, Bengt B; Linde, Torbjörn T; Ljunggren, Östen Ö
Publication Date: 2020-06-24

Variant appearance in text: rs564481
PubMed Link: 32581247
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_66517.pdf
View BVdb publication page



KLOTHO polymorphisms and age-related outcomes in community-dwelling older subjects: The São Paulo Ageing & Health (SPAH) Study.

Scientific Reports
Pereira, Rosa Maria R RMR; Freitas, Thiago Quadrante TQ; Franco, André Silva AS; Takayama, Liliam L; Caparbo, Valeria F VF; Domiciano, Diogo S DS; Machado, Luana G LG; Figueiredo, Camille P CP; Menezes, Paulo R PR; Onuchic, Luiz Fernando LF; de Castro, Isac I
Publication Date: 2020-05-22

Variant appearance in text: rs564481
PubMed Link: 32444684
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_65441.pdf
View BVdb publication page



The goddess who spins the thread of life: Klotho, psychiatric stress, and accelerated aging.

Brain, Behavior, And Immunity
Wolf, Erika J EJ; Morrison, Filomene G FG; Sullivan, Danielle R DR; Logue, Mark W MW; Guetta, Rachel E RE; Stone, Annjanette A; Schichman, Steven A SA; McGlinchey, Regina E RE; Milberg, William P WP; Miller, Mark W MW
Publication Date: 2019-08

Variant appearance in text: rs564481
PubMed Link: 30872092
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of Klotho gene polymorphism with hypertension and coronary artery disease in an Iranian population.

Bmc Cardiovascular Disorders
Akbari, Hamed H; Asadikaram, Gholamreza G; Aria, Hamid H; Fooladi, Saba S; Vakili, Sina S; Masoumi, Mohammad M
Publication Date: 2018-12-14

Variant appearance in text: rs564481
PubMed Link: 30547758
Variant Present in the following documents:
  • Main text
  • 12872_2018_Article_971.pdf
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs564481
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Significant roles of anti-aging protein klotho and fibroblast growth factor23 in cardiovascular disease.

Journal Of Geriatric Cardiology : Jgc
Ding, Hong-Ying HY; Ma, Hou-Xun HX
Publication Date: 2015-07

Variant appearance in text: rs564481
PubMed Link: 26347327
Variant Present in the following documents:
  • Main text
View BVdb publication page



Renal function and klotho gene polymorphisms among Uygur and Kazak populations in Xinjiang, China.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Xu, Xinjuan X; Liang, Xiaohui X; Hu, Guangmei G; Zhang, Junshi J; Lei, Hong H
Publication Date: 2015-01-05

Variant appearance in text: rs564481
PubMed Link: 25556925
Variant Present in the following documents:
  • Main text
  • medscimonit-21-44.pdf
View BVdb publication page



TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Plos One
Ogata, Tsutomu T; Niihori, Tetsuya T; Tanaka, Noriko N; Kawai, Masahiko M; Nagashima, Takeshi T; Funayama, Ryo R; Nakayama, Keiko K; Nakashima, Shinichi S; Kato, Fumiko F; Fukami, Maki M; Aoki, Yoko Y; Matsubara, Yoichi Y
Publication Date: 2014

Variant appearance in text: rs564481
PubMed Link: 24637876
Variant Present in the following documents:
  • pone.0091598.s006.pdf
View BVdb publication page



Candidate gene analysis of arteriovenous fistula failure in hemodialysis patients.

Clinical Journal Of The American Society Of Nephrology : Cjasn
Verschuren, Jeffrey J W JJ; Ocak, Gurbey G; Dekker, Friedo W FW; Rabelink, Ton J TJ; Jukema, J Wouter JW; Rotmans, Joris I JI
Publication Date: 2013-08

Variant appearance in text: rs564481
PubMed Link: 23559680
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole genome sequences of a male and female supercentenarian, ages greater than 114 years.

Frontiers In Genetics
Sebastiani, Paola P; Riva, Alberto A; Montano, Monty M; Pham, Phillip P; Torkamani, Ali A; Scherba, Eugene E; Benson, Gary G; Milton, Jacqueline N JN; Baldwin, Clinton T CT; Andersen, Stacy S; Schork, Nicholas J NJ; Steinberg, Martin H MH; Perls, Thomas T TT
Publication Date: 2011

Variant appearance in text: rs564481
PubMed Link: 22303384
Variant Present in the following documents:
  • Main text
  • fgene-02-00090.pdf
View BVdb publication page



Klotho locus, metabolic traits, and serum hemoglobin in hospitalized older patients: a genetic association analysis.

Age (Dordrecht, Netherlands)
Paroni, Giulia G; Seripa, Davide D; Panza, Francesco F; Addante, Filomena F; Copetti, Massimiliano M; D'Onofrio, Grazia G; Pellegrini, Fabio F; Fontana, Luigi L; Pilotto, Alberto A
Publication Date: 2012-08

Variant appearance in text: rs564481
PubMed Link: 21695423
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of polymorphisms in the klotho gene with severity of non-diabetic ESRD in African Americans.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Bostrom, Meredith A MA; Hicks, Pamela J PJ; Lu, Lingyi L; Langefeld, Carl D CD; Freedman, Barry I BI; Bowden, Donald W DW
Publication Date: 2010-10

Variant appearance in text: rs564481
PubMed Link: 20466664
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in healthy oldest-old.

Plos One
Halaschek-Wiener, Julius J; Amirabbasi-Beik, Mahsa M; Monfared, Nasim N; Pieczyk, Markus M; Sailer, Christian C; Kollar, Anita A; Thomas, Ruth R; Agalaridis, Georgios G; Yamada, So S; Oliveira, Lisa L; Collins, Jennifer A JA; Meneilly, Graydon G; Marra, Marco A MA; Madden, Kenneth M KM; Le, Nhu D ND; Connors, Joseph M JM; Brooks-Wilson, Angela R AR
Publication Date: 2009-08-14

Variant appearance in text: rs564481
PubMed Link: 19680556
Variant Present in the following documents:
  • pone.0006641.s001.xls, sheet 1
View BVdb publication page