RETN c.118+39C>T

Variant ID: 19-7734369-C-T

NM_020415.3(RETN):c.118+39C>T

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs3219177
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Using machine learning to identify gene interaction networks associated with breast cancer.

Bmc Cancer
Liu, Liyuan L; Zhai, Wenli W; Wang, Fei F; Yu, Lixiang L; Zhou, Fei F; Xiang, Yujuan Y; Huang, Shuya S; Zheng, Chao C; Yuan, Zhongshang Z; He, Yong Y; Yu, Zhigang Z; Ji, Jiadong J
Publication Date: 2022-10-17

Variant appearance in text: rs3219177
PubMed Link: 36253742
Variant Present in the following documents:
  • Main text
  • 12885_2022_Article_10170.pdf
View BVdb publication page



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: rs3219177
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs3219177
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Genetics and Epigenetics of Atopic Dermatitis: An Updated Systematic Review.

Genes
Martin, Maria J MJ; Estravís, Miguel M; García-Sánchez, Asunción A; Dávila, Ignacio I; Isidoro-García, María M; Sanz, Catalina C
Publication Date: 2020-04-18

Variant appearance in text: rs3219177
PubMed Link: 32325630
Variant Present in the following documents:
  • Main text
  • genes-11-00442.pdf
View BVdb publication page



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: rs3219177
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Association between Resistin Gene Polymorphisms and Atopic Dermatitis.

Biomolecules
Banihani, Saleem A SA; Abu-Alia, Khawla F KF; Khabour, Omar F OF; Alzoubi, Karem H KH
Publication Date: 2018-03-27

Variant appearance in text: rs3219177
PubMed Link: 29584687
Variant Present in the following documents:
  • Main text
  • biomolecules-08-00017.pdf
View BVdb publication page



Relevance Study on Cerebral Infarction and Resistin Gene Polymorphism in Chinese Han Population.

Aging And Disease
Yan, Aijuan A; Cai, Gaoyu G; Fu, Ningzhen N; Feng, Yulan Y; Sun, Jialan J; Maimaiti, Yiming Y; Zhou, Weijun W; Fu, Yi Y
Publication Date: 2016-10

Variant appearance in text: rs3219177
PubMed Link: 27699082
Variant Present in the following documents:
  • Main text
  • ad-7-5-593.pdf
View BVdb publication page



Highlights from the functional single nucleotide polymorphisms associated with human muscle size and strength or FAMuSS study.

Biomed Research International
Pescatello, Linda S LS; Devaney, Joseph M JM; Hubal, Monica J MJ; Thompson, Paul D PD; Hoffman, Eric P EP
Publication Date: 2013

Variant appearance in text: rs3219177
PubMed Link: 24455711
Variant Present in the following documents:
  • Main text
  • BMRI2013-643575.pdf
View BVdb publication page



A at single nucleotide polymorphism-358 is required for G at -420 to confer the highest plasma resistin in the general Japanese population.

Plos One
Onuma, Hiroshi H; Tabara, Yasuharu Y; Kawamura, Ryoichi R; Tanaka, Takashi T; Ohashi, Jun J; Nishida, Wataru W; Takata, Yasunori Y; Ochi, Masaaki M; Yamada, Kazuya K; Kawamoto, Ryuichi R; Kohara, Katsuhiko K; Miki, Tetsuro T; Makino, Hideichi H; Osawa, Haruhiko H
Publication Date: 2010-03-16

Variant appearance in text: rs3219177
PubMed Link: 20300528
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of variants in RETN with plasma resistin levels and diabetes-related traits in the Framingham Offspring Study.

Diabetes
Hivert, Marie-France MF; Manning, Alisa K AK; McAteer, Jarred B JB; Dupuis, Josée J; Fox, Caroline S CS; Cupples, L Adrienne LA; Meigs, James B JB; Florez, Jose C JC
Publication Date: 2009-03

Variant appearance in text: rs3219177
PubMed Link: 19074981
Variant Present in the following documents:
  • Main text
  • 750.pdf
View BVdb publication page



Resistin gene variation is associated with systemic inflammation but not plasma adipokine levels, metabolic syndrome or coronary atherosclerosis in nondiabetic Caucasians.

Clinical Endocrinology
Qasim, Atif N AN; Metkus, Thomas S TS; Tadesse, Mahlet M; Lehrke, Michael M; Restine, Stephanie S; Wolfe, Megan L ML; Hannenhalli, Sridhar S; Cappola, Thomas T; Rader, Daniel J DJ; Reilly, Muredach P MP
Publication Date: 2009-05

Variant appearance in text: rs3219177
PubMed Link: 18710472
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic analysis implicates resistin in HIV lipodystrophy.

Aids (London, England)
Ranade, Koustubh K; Geese, William J WJ; Noor, Mustafa M; Flint, Oliver O; Tebas, Pablo P; Mulligan, Kathleen K; Powderly, William W; Grinspoon, Steven K SK; Dube, Michael P MP
Publication Date: 2008-08-20

Variant appearance in text: rs3219177
PubMed Link: 18670214
Variant Present in the following documents:
  • Main text
View BVdb publication page



Physiogenomic comparison of human fat loss in response to diets restrictive of carbohydrate or fat.

Nutrition & Metabolism
Seip, Richard L RL; Volek, Jeff S JS; Windemuth, Andreas A; Kocherla, Mohan M; Fernandez, Maria Luz ML; Kraemer, William J WJ; Ruaño, Gualberto G
Publication Date: 2008-02-06

Variant appearance in text: rs3219177
PubMed Link: 18254975
Variant Present in the following documents:
  • Main text
View BVdb publication page



Medical sequencing at the extremes of human body mass.

American Journal Of Human Genetics
Ahituv, Nadav N; Kavaslar, Nihan N; Schackwitz, Wendy W; Ustaszewska, Anna A; Martin, Joel J; Hebert, Sybil S; Doelle, Heather H; Ersoy, Baran B; Kryukov, Gregory G; Schmidt, Steffen S; Yosef, Nir N; Ruppin, Eytan E; Sharan, Roded R; Vaisse, Christian C; Sunyaev, Shamil S; Dent, Robert R; Cohen, Jonathan J; McPherson, Ruth R; Pennacchio, Len A LA
Publication Date: 2007-04

Variant appearance in text: rs3219177
PubMed Link: 17357083
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variation in the resistin gene is associated with obesity and insulin-related phenotypes in Finnish subjects.

Diabetologia
Conneely, K N KN; Silander, K K; Scott, L J LJ; Mohlke, K L KL; Lazaridis, K N KN; Valle, T T TT; Tuomilehto, J J; Bergman, R N RN; Watanabe, R M RM; Buchanan, T A TA; Collins, F S FS; Boehnke, M M
Publication Date: 2004-10

Variant appearance in text: rs3219177
PubMed Link: 15517149
Variant Present in the following documents:
  • Main text
View BVdb publication page



The G/G genotype of a resistin single-nucleotide polymorphism at -420 increases type 2 diabetes mellitus susceptibility by inducing promoter activity through specific binding of Sp1/3.

American Journal Of Human Genetics
Osawa, Haruhiko H; Yamada, Kazuya K; Onuma, Hiroshi H; Murakami, Akiko A; Ochi, Masaaki M; Kawata, Hiroko H; Nishimiya, Tatsuya T; Niiya, Toshiyuki T; Shimizu, Ikki I; Nishida, Wataru W; Hashiramoto, Mitsuru M; Kanatsuka, Azuma A; Fujii, Yasuhisa Y; Ohashi, Jun J; Makino, Hideichi H
Publication Date: 2004-10

Variant appearance in text: rs3219177
PubMed Link: 15338456
Variant Present in the following documents:
  • Main text
View BVdb publication page