Publications:

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: KL: K385K; rs9527026

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2

View BVdb publication page

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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: rs9527026

PubMed Link: 32581247

Variant Present in the following documents:

• Main text
• 41598_2020_Article_66517.pdf

View BVdb publication page

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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: rs9527026

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Klotho Gene in Human Salt-Sensitive Hypertension.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Citterio, Lorena L; Delli Carpini, Simona S; Lupoli, Sara S; Brioni, Elena E; Simonini, Marco M; Fontana, Simone S; Zagato, Laura L; Messaggio, Elisabetta E; Barlassina, Cristina C; Cusi, Daniele D; Manunta, Paolo P; Lanzani, Chiara C

Publication Date: 2020-03-06

Variant appearance in text: rs9527026

PubMed Link: 31992575

Variant Present in the following documents:

• Main text

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: KL: 1155G>A; Lys385=; rs9527026

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: KL: K385K; rs9527026

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: KL: 1155G>A

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs9527026

PubMed Link: 30872092

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Biological Role of Klotho Protein in the Development of Cardiovascular Diseases.

Biomed Research International

Olejnik, Agnieszka A; Franczak, Aleksandra A; Krzywonos-Zawadzka, Anna A; Kałużna-Oleksy, Marta M; Bil-Lula, Iwona I

Publication Date: 2018

Variant appearance in text: KL: K385K

PubMed Link: 30671457

Variant Present in the following documents:

• Main text
• BMRI2018-5171945.pdf

View BVdb publication page

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The genetic component of human longevity: New insights from the analysis of pathway-based SNP-SNP interactions.

Aging Cell

Dato, Serena S; Soerensen, Mette M; De Rango, Francesco F; Rose, Giuseppina G; Christensen, Kaare K; Christiansen, Lene L; Passarino, Giuseppe G

Publication Date: 2018-06

Variant appearance in text: rs9527026

PubMed Link: 29577582

Variant Present in the following documents:

• Main text
• ACEL-17-e12755.pdf

View BVdb publication page

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A Case of Hyperphosphatemia and Elevated Fibroblast Growth Factor 23: A Brief Review of Hyperphosphatemia and Fibroblast Growth Factor 23 Pathway.

Kidney International Reports

Wang, Joseph J; Vogt, Beth B; Sethi, Sidharth Kumar SK; Sampson, Matthew G MG; Vega-Warner, Virginia V; Otto, Edgar A EA; Raina, Rupesh R

Publication Date: 2017-11

Variant appearance in text: KL: 1155G>A; rs9527026

PubMed Link: 29270533

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: KL: K385K; rs9527026

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 1
• srep30457-s2.xls, sheet 2

View BVdb publication page

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Genetic Variants in KLOTHO Associate With Cognitive Function in the Oldest Old Group.

The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences

Mengel-From, Jonas J; Soerensen, Mette M; Nygaard, Marianne M; McGue, Matt M; Christensen, Kaare K; Christiansen, Lene L

Publication Date: 2016-09

Variant appearance in text: KL: K385K; rs9527026

PubMed Link: 26405063

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: KL: K385K; rs9527026

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: KL: K385K

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s001.xls, sheet 3

View BVdb publication page

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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: rs9527026

PubMed Link: 22303384

Variant Present in the following documents:

• Main text
• fgene-02-00090.pdf

View BVdb publication page

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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: rs9527026

PubMed Link: 19680556

Variant Present in the following documents:

• pone.0006641.s001.xls, sheet 1

View BVdb publication page

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