KL c.1109G>T ;(p.C370F)

Variant ID: 13-33628193-G-T

NM_004795.3(KL):c.1109G>T;(p.C370F)

This variant was identified in 25 publications

View GRCh38 version.




Publications:


The Interrelated Multifactorial Actions of Cortisol and Klotho: Potential Implications in the Pathogenesis of Parkinson's Disease.

Brain Sciences
Luthra, Nijee S NS; Clow, Angela A; Corcos, Daniel M DM
Publication Date: 2022-12-10

Variant appearance in text: rs9527025
PubMed Link: 36552155
Variant Present in the following documents:
  • Main text
  • brainsci-12-01695.pdf
View BVdb publication page



AD-associated CSF biomolecular changes are attenuated in KL-VS heterozygotes.

Alzheimer'S & Dementia (Amsterdam, Netherlands)
Driscoll, Ira I; Ma, Yue Y; Lose, Sarah R SR; Gallagher, Catherine L CL; Johnson, Sterling C SC; Asthana, Sanjay S; Hermann, Bruce P BP; Sager, Mark A MA; Blennow, Kaj K; Zetterberg, Henrik H; Carlsson, Cynthia M CM; Engelman, Corinne D CD; Dubal, Dena B DB; Okonkwo, Ozioma C OC
Publication Date: 2022

Variant appearance in text: rs9527025
PubMed Link: 36505396
Variant Present in the following documents:
  • Main text
  • DAD2-14-e12383.pdf
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Reduced Plasma Levels of α-Klotho and Their Correlation With Klotho Polymorphisms in Elderly Patients With Major Depressive Disorders.

Frontiers In Psychiatry
Gao, Xiang X; Sun, Zuoli Z; Ma, Guangwei G; Li, Yuhong Y; Liu, Min M; Zhang, Guofu G; Xu, Hong H; Gao, Yane Y; Zhou, Jixuan J; Deng, Qi Q; Li, Rena R
Publication Date: 2021

Variant appearance in text: rs9527025
PubMed Link: 34721095
Variant Present in the following documents:
  • Main text
  • fpsyt-12-682691.pdf
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Klotho and vitamin D in multiple sclerosis: an Italian study.

Archives Of Medical Science : Ams
Scazzone, Concetta C; Agnello, Luisa L; Sasso, Bruna Lo BL; Ragonese, Paolo P; Bivona, Giulia G; Realmuto, Sabrina S; Iacolino, Giorgia G; Gambino, Caterina Maria CM; Bellia, Chiara C; Salemi, Giuseppe G; Ciaccio, Marcello M
Publication Date: 2020

Variant appearance in text: rs9527025
PubMed Link: 32542086
Variant Present in the following documents:
  • Main text
  • AMS-16-37335.pdf
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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: rs9527025
PubMed Link: 32444684
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_65441.pdf
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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs9527025
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Validation of a priori candidate Alzheimer's disease SNPs with brain amyloid-beta deposition.

Scientific Reports
Vacher, Michael M; Porter, Tenielle T; Villemagne, Victor L VL; Milicic, Lidija L; Peretti, Madeline M; Fowler, Christopher C; Martins, Ralph R; Rainey-Smith, Stephanie S; Ames, David D; Masters, Colin L CL; Rowe, Christopher C CC; Doecke, James D JD; Laws, Simon M SM
Publication Date: 2019-11-19

Variant appearance in text: rs9527025
PubMed Link: 31745181
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_53604.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: rs9527025
PubMed Link: 30872092
Variant Present in the following documents:
  • Main text
View BVdb publication page



KLOTHO heterozygosity attenuates APOE4-related amyloid burden in preclinical AD.

Neurology
Erickson, Claire M CM; Schultz, Stephanie A SA; Oh, Jennifer M JM; Darst, Burcu F BF; Ma, Yue Y; Norton, Derek D; Betthauser, Tobey T; Gallagher, Catherine L CL; Carlsson, Cynthia M CM; Bendlin, Barbara B BB; Asthana, Sanjay S; Hermann, Bruce P BP; Sager, Mark A MA; Blennow, Kaj K; Zetterberg, Henrik H; Engelman, Corinne D CD; Christian, Bradley T BT; Johnson, Sterling C SC; Dubal, Dena B DB; Okonkwo, Ozioma C OC
Publication Date: 2019-04-16

Variant appearance in text: rs9527025
PubMed Link: 30867273
Variant Present in the following documents:
  • Main text
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs9527025
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Age-Related Differences in Brain Morphology and the Modifiers in Middle-Aged and Older Adults.

Cerebral Cortex (New York, N.Y. : 1991)
Zhao, Lu L; Matloff, William W; Ning, Kaida K; Kim, Hosung H; Dinov, Ivo D ID; Toga, Arthur W AW
Publication Date: 2019-09-13

Variant appearance in text: rs9527025
PubMed Link: 30535294
Variant Present in the following documents:
  • Main text
View BVdb publication page



Correlation between KLOTHO gene and mild cognitive impairment in the Uygur and Han populations of Xinjiang.

Oncotarget
Abulizi, Palida P; Zhou, Xiao-Hui XH; Keyimu, Kabinuer K; Luo, Mei M; Jin, Feng-Qing FQ
Publication Date: 2017-09-26

Variant appearance in text: rs9527025
PubMed Link: 29088855
Variant Present in the following documents:
  • Main text
  • oncotarget-08-75174.pdf
View BVdb publication page



Serum Klotho (but not haplotypes) associate with the post-myocardial infarction status of older adults.

Clinics (Sao Paulo, Brazil)
Paula, Roberta S RS; Souza, Vinícius C VC; Machado-Silva, Wilcelly W; Almeida, Bruno Ratier S BR; Daros, Andersen C AC; Gomes, Lucy L; Ferreira, Aparecido P AP; Brito, Ciro J CJ; Córdova, Cláudio C; Moraes, Clayton F CF; Nóbrega, Otávio T OT
Publication Date: 2016-12-01

Variant appearance in text: rs9527025
PubMed Link: 28076518
Variant Present in the following documents:
  • Main text
  • cln-71-12-725.pdf
View BVdb publication page



Lack of functional KL-VS polymorphism of the KLOTHO gene in the Korean population.

Genetics And Molecular Biology
Kim, Hee-Kwon HK; Jeong, Byung-Hoon BH
Publication Date: 2016

Variant appearance in text: rs9527025
PubMed Link: 27560364
Variant Present in the following documents:
  • Main text
  • 1415-4757-gmb-1678-4685-GMB-2015-0160.pdf
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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs9527025
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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: rs9527025
PubMed Link: 25556925
Variant Present in the following documents:
  • Main text
  • medscimonit-21-44.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: rs9527025
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: rs9527025
PubMed Link: 22303384
Variant Present in the following documents:
  • Main text
  • fgene-02-00090.pdf
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Association of factor V gene polymorphism with arteriovenous graft failure.

American Journal Of Kidney Diseases : The Official Journal Of The National Kidney Foundation
Allon, Michael M; Zhang, Li L; Maya, Ivan D ID; Bray, Molly S MS; Fernandez, Jose R JR; ,
Publication Date: 2012-05

Variant appearance in text: rs9527025
PubMed Link: 22281051
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lack of association of Klotho gene variants with valvular and vascular calcification in Caucasians: a candidate gene study of the Framingham Offspring Cohort.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Tangri, Navdeep N; Alam, Ahsan A; Wooten, Eric C EC; Huggins, Gordon S GS
Publication Date: 2011-12

Variant appearance in text: rs9527025
PubMed Link: 21565945
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: rs9527025
PubMed Link: 20466664
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.

Genomics Insights
Driss, A A; Asare, K O KO; Hibbert, J M JM; Gee, B E BE; Adamkiewicz, T V TV; Stiles, J K JK
Publication Date: 2009-07-30

Variant appearance in text: rs9527025
PubMed Link: 20401335
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: rs9527025
PubMed Link: 19680556
Variant Present in the following documents:
  • pone.0006641.s001.xls, sheet 1
View BVdb publication page



Preterm birth in Caucasians is associated with coagulation and inflammation pathway gene variants.

Plos One
Velez, Digna R DR; Fortunato, Stephen J SJ; Thorsen, Poul P; Lombardi, Salvatore J SJ; Williams, Scott M SM; Menon, Ramkumar R
Publication Date: 2008-09-26

Variant appearance in text: rs9527025
PubMed Link: 18818748
Variant Present in the following documents:
  • Main text
  • pone.0003283.pdf
View BVdb publication page