LEPR c.326A>G ;(p.K109R)

Variant ID: 1-66036441-A-G

NM_002303.5(LEPR):c.326A>G;(p.K109R)

This variant was identified in 200 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: LEPR: K109R
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Genetic Markers of Insulin Resistance and Atherosclerosis in Type 2 Diabetes Mellitus Patients with Coronary Artery Disease.

Metabolites
Perumalsamy, Sangeetha S; Huri, Hasniza Zaman HZ; Abdullah, Bashar Mudhaffar BM; Mazlan, Othman O; Wan Ahmad, Wan Azman WA; Vethakkan, Shireene Ratna D B SRDB
Publication Date: 2023-03-14

Variant appearance in text: LEPR: Lys109Arg; rs1137100
PubMed Link: 36984867
Variant Present in the following documents:
  • Main text
  • metabolites-13-00427.pdf
View BVdb publication page



Identification of Key Target Genes and Pathway Analysis in Nonalcoholic Fatty Liver Disease Via Integrated Bioinformatics Analysis.

Balkan Journal Of Medical Genetics : Bjmg
Chen, X X; Zhang, L L; Wang, Y Y; Li, R R; Yang, M M; Gao, L L
Publication Date: 2022-06

Variant appearance in text: LEPR: K109R
PubMed Link: 36880036
Variant Present in the following documents:
  • bjmg-25-025.pdf
View BVdb publication page



Integrating Common Risk Factors with Polygenic Scores Improves the Prediction of Type 2 Diabetes.

International Journal Of Molecular Sciences
Timasheva, Yanina Y; Balkhiyarova, Zhanna Z; Avzaletdinova, Diana D; Rassoleeva, Irina I; Morugova, Tatiana V TV; Korytina, Gulnaz G; Prokopenko, Inga I; Kochetova, Olga O
Publication Date: 2023-01-04

Variant appearance in text: LEPR: Lys109Arg; rs1137100
PubMed Link: 36674502
Variant Present in the following documents:
  • ijms-24-00984.pdf
View BVdb publication page



Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs1137100
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



The Complex Roles of Adipokines in Polycystic Ovary Syndrome and Endometriosis.

Biomedicines
Schüler-Toprak, Susanne S; Ortmann, Olaf O; Buechler, Christa C; Treeck, Oliver O
Publication Date: 2022-10-07

Variant appearance in text: LEPR: Lys109Arg; rs1137100
PubMed Link: 36289764
Variant Present in the following documents:
  • Main text
  • biomedicines-10-02503.pdf
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: rs1137100
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: LEPR: K109R
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
View BVdb publication page



Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population.

Journal Of The American Heart Association
Shi, Mengyao M; Kelly, Tanika N TN; Zhu, Zhengbao Z; Li, Changwei C; Shen, Chong C; Sun, Yingxian Y; Wang, Aili A; Shan, Guangliang G; Bu, Xiaoqing X; Guo, Daoxia D; Zhao, Jingbo J; Xu, Tan T; Peng, Hao H; Xu, Tian T; Zhong, Chongke C; Sun, Xiao X; Chen, Jing J; Zhang, Yonghong Y; He, Jiang J
Publication Date: 2022-10-04

Variant appearance in text: LEPR: Lys109Arg
PubMed Link: 36193932
Variant Present in the following documents:
  • JAH3-11-e025245.pdf
View BVdb publication page



A Longitudinal Study of the Association between the LEPR Polymorphism and Treatment Response in Patients with Bipolar Disorder.

International Journal Of Molecular Sciences
Chang, Hui Hua HH; Hsueh, Yuan-Shuo YS; Cheng, Yung Wen YW; Tseng, Huai-Hsuan HH
Publication Date: 2022-08-25

Variant appearance in text: rs1137100
PubMed Link: 36077028
Variant Present in the following documents:
  • Main text
  • ijms-23-09635.pdf
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: LEPR: K109R; rs1137100
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Association between Leptin (G2548A) and Leptin Receptor (Q223R) Polymorphisms with Plasma Leptin, BMI, Stress, Sleep and Eating Patterns among the Multiethnic Young Malaysian Adult Population from a Healthcare University.

International Journal Of Environmental Research And Public Health
Mohanraj, Jaiprakash J; D'Souza, Urban J A UJA; Fong, Siat Yee SY; Karkada, Ivan Rolland IR; Jaiprakash, Heethal H
Publication Date: 2022-07-21

Variant appearance in text: LEPR: K109R
PubMed Link: 35886710
Variant Present in the following documents:
  • Main text
  • ijerph-19-08862.pdf
View BVdb publication page



Association between the LRP5 rs556442 gene polymorphism and the risks of NAFLD and CHD in a Chinese Han population.

Bmc Gastroenterology
Han, Dongli D; Zhang, Haiying H; Liu, Shousheng S; Zhuang, Likun L; Zhao, Zhenzhen Z; Ding, Hongguang H; Xin, Yongning Y
Publication Date: 2022-06-22

Variant appearance in text: rs1137100
PubMed Link: 35733105
Variant Present in the following documents:
  • Main text
  • 12876_2022_Article_2385.pdf
View BVdb publication page



[Nutrigenetics: potentials and applications in cardiovascular diseases and associated risk factors].

Revista De La Facultad De Ciencias Medicas (Cordoba, Argentina)
Defagó, Maria Daniela MD; Eynard, Aldo Renato AR
Publication Date: 2022-06-06

Variant appearance in text: rs1137100
PubMed Link: 35700474
Variant Present in the following documents:
  • 1853-0605-79-2-168.pdf
View BVdb publication page



A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: LEPR: 326A>G; Lys109Arg
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Cytokine pathway variants modulate platelet production: IFNA16 is a thrombocytosis susceptibility locus in humans.

Blood Advances
Gnatenko, Dmitri V DV; Liu, Zhaoyan Z; Hearing, Patrick P; Sohn, Sook-Young SY; Hu, Yetao Y; Falanga, Anna A; Wu, Song S; Malone, Lisa E LE; Zhu, Wei W; Bahou, Wadie F WF
Publication Date: 2022-08-23

Variant appearance in text: LEPR: K109R; rs1137100
PubMed Link: 35381074
Variant Present in the following documents:
  • advancesADV2021005648-suppl1.pdf
View BVdb publication page



Single-Nucleotide Polymorphisms in LEP and LEPR Associated With Breast Cancer Risk: Results From a Multicenter Case-Control Study in Chinese Females.

Frontiers In Oncology
Li, Liang L; Meng, Xingchen X; Liu, Liyuan L; Xiang, Yujuan Y; Wang, Fei F; Yu, Lixiang L; Zhou, Fei F; Zheng, Chao C; Zhou, Wenzhong W; Cui, Shude S; Tian, Fuguo F; Fan, Zhimin Z; Geng, Cuizhi C; Cao, Xuchen X; Yang, Zhenlin Z; Wang, Xiang X; Liang, Hong H; Wang, Shu S; Jiang, Hongchuan H; Duan, Xuening X; Wang, Haibo H; Li, Guolou G; Wang, Qitang Q; Zhang, Jianguo J; Jin, Feng F; Tang, Jinhai J; Li, Liang L; Zhu, Shiguang S; Zuo, Wenshu W; Ye, Chunmiao C; Yin, Gengshen G; Ma, Zhongbing Z; Huang, Shuya S; Yu, Zhigang Z
Publication Date: 2022

Variant appearance in text: LEPR: K109R; rs1137100
PubMed Link: 35223490
Variant Present in the following documents:
  • Main text
  • fonc-12-809570.pdf
View BVdb publication page



Immune Response and Lipid Metabolism Gene Polymorphisms Are Associated with the Risk of Obesity in Middle-Aged and Elderly Patients.

Journal Of Personalized Medicine
Ponasenko, Anastasia A; Sinitsky, Maxim M; Minina, Varvara V; Vesnina, Anna A; Khutornaya, Maria M; Prosekov, Alexander A; Barbarash, Olga O
Publication Date: 2022-02-08

Variant appearance in text: rs1137100
PubMed Link: 35207726
Variant Present in the following documents:
  • Main text
  • jpm-12-00238.pdf
View BVdb publication page



Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Iscience
Bateman, Nicholas W NW; Tarney, Christopher M CM; Abulez, Tamara S TS; Hood, Brian L BL; Conrads, Kelly A KA; Zhou, Ming M; Soltis, Anthony R AR; Teng, Pang-Ning PN; Jackson, Amanda A; Tian, Chunqiao C; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Kessler, Michael D MD; Goecker, Zachary Z; Loffredo, Jeremy J; Shriver, Craig D CD; Hu, Hai H; Cote, Michele M; Parker, Glendon J GJ; Segars, James J; Al-Hendy, Ayman A; Risinger, John I JI; Phippen, Neil T NT; Casablanca, Yovanni Y; Darcy, Kathleen M KM; Maxwell, G Larry GL; Conrads, Thomas P TP; O'Connor, Timothy D TD
Publication Date: 2022-01-21

Variant appearance in text: LEPR: K109R; rs1137100
PubMed Link: 35036865
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Interaction of Polygenetic Variants for Gestational Diabetes Mellitus Risk with Breastfeeding and Korean Balanced Diet to Influence Type 2 Diabetes Risk in Later Life in a Large Hospital-Based Cohort.

Journal Of Personalized Medicine
Park, Sunmin S
Publication Date: 2021-11-10

Variant appearance in text: rs1137100
PubMed Link: 34834527
Variant Present in the following documents:
  • Main text
  • jpm-11-01175.pdf
View BVdb publication page



Epione application: An integrated web‑toolkit of clinical genomics and personalized medicine in systemic lupus erythematosus.

International Journal Of Molecular Medicine
Papageorgiou, Louis L; Alkenaris, Haris H; Zervou, Maria I MI; Vlachakis, Dimitriοs D; Matalliotakis, Ioannis I; Spandidos, Demetrios A DA; Bertsias, George G; Goulielmos, George N GN; Eliopoulos, Elias E
Publication Date: 2022-01

Variant appearance in text: rs1137100
PubMed Link: 34791504
Variant Present in the following documents:
  • Main text
View BVdb publication page



Examining the Causal Inference of Leptin and Soluble Plasma Leptin Receptor Levels on Schizophrenia: A Mendelian Randomization Study.

Frontiers In Psychiatry
Chen, Guoqing G; Wang, Qiuling Q; Xue, Ranran R; Liu, Xia X; Yu, Hao H
Publication Date: 2021

Variant appearance in text: rs1137100
PubMed Link: 34777056
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of Single Nucleotide Polymorphisms in LEP, LEPR, and PPARG With Humoral Immune Response to Influenza Vaccine.

Frontiers In Genetics
Li, Mao M; Wei, Hejiang H; Zhong, Shuyi S; Cheng, Yanhui Y; Wen, Simin S; Wang, Dayan D; Shu, Yuelong Y
Publication Date: 2021

Variant appearance in text: rs1137100
PubMed Link: 34745208
Variant Present in the following documents:
  • Main text
  • fgene-12-725538.pdf
View BVdb publication page



A Clinical-Genetic Score for Predicting Weight Loss after Bariatric Surgery: The OBEGEN Study.

Journal Of Personalized Medicine
Ciudin, Andreea A; Fidilio, Enzamaría E; Gutiérrez-Carrasquilla, Liliana L; Caixàs, Assumpta A; Vilarrasa, Núria N; Pellitero, Silvia S; Simó-Servat, Andreu A; Vilallonga, Ramon R; Ruiz, Amador A; de la Fuente, Maricruz M; Luna, Alexis A; Sánchez, Enric E; Rigla, Mercedes M; Hernández, Cristina C; Salas, Eduardo E; Simó, Rafael R; Lecube, Albert A
Publication Date: 2021-10-17

Variant appearance in text: rs1137100
PubMed Link: 34683180
Variant Present in the following documents:
  • Main text
  • jpm-11-01040.pdf
View BVdb publication page



Physical Exercise: An Overview of Benefits From Psychological Level to Genetics and Beyond.

Frontiers In Physiology
Wang, Yucong Y; Ashokan, Kalaiselvan K
Publication Date: 2021

Variant appearance in text: rs1137100
PubMed Link: 34456756
Variant Present in the following documents:
  • Main text
  • fphys-12-731858.pdf
View BVdb publication page



Association of PON1, LEP and LEPR Polymorphisms with Susceptibility to Breast Cancer: A Meta-Analysis.

Asian Pacific Journal Of Cancer Prevention : Apjcp
Sayad, Soheila S; Dastgheib, Seyed Alireza SA; Farbod, Meraj M; Asadian, Fatemeh F; Karimi-Zarchi, Mojgan M; Salari, Seyedali S; Shaker, Seyed Hossein SH; Sadeghizadeh-Yazdi, Jalal J; Neamatzadeh, Hossein H
Publication Date: 2021-08-01

Variant appearance in text: LEPR: Lys109Arg; rs1137100
PubMed Link: 34452542
Variant Present in the following documents:
  • Main text
View BVdb publication page



Current Landscape: The Mechanism and Therapeutic Impact of Obesity for Breast Cancer.

Frontiers In Oncology
Zhao, Chongru C; Hu, Weijie W; Xu, Yi Y; Wang, Dawei D; Wang, Yichen Y; Lv, Wenchang W; Xiong, Mingchen M; Yi, Yi Y; Wang, Haiping H; Zhang, Qi Q; Wu, Yiping Y
Publication Date: 2021

Variant appearance in text: rs1137100
PubMed Link: 34350120
Variant Present in the following documents:
  • Main text
View BVdb publication page



Haplotype analysis on correlation between transcription factor 7-like 2 gene polymorphism and breast cancer risk.

Bmc Cancer
Wang, Yang Y; Men, Xiaojuan X; Gu, Yongxue Y; Wang, Huidong H; Xu, Zhicai Z
Publication Date: 2021-08-02

Variant appearance in text: rs1137100
PubMed Link: 34340678
Variant Present in the following documents:
  • Main text
  • 12885_2021_Article_8571.pdf
View BVdb publication page



Impaired Leptin Signalling in Obesity: Is Leptin a New Thermolipokine?

International Journal Of Molecular Sciences
Genchi, Valentina Annamaria VA; D'Oria, Rossella R; Palma, Giuseppe G; Caccioppoli, Cristina C; Cignarelli, Angelo A; Natalicchio, Annalisa A; Laviola, Luigi L; Giorgino, Francesco F; Perrini, Sebastio S
Publication Date: 2021-06-16

Variant appearance in text: LEPR: K109R
PubMed Link: 34208585
Variant Present in the following documents:
  • Main text
View BVdb publication page



The New Kid on the Block: The Mechanisms of Action of Hyperleptinemia in Coronary Artery Disease and Atherosclerosis.

Cureus
Hernandez, Vernicia V; Kaur, Kavaljeet K; ElSharief, Mohamed W MW; Al Hajaj, Sari W SW; Ebrahim, Ahmed M AM; Razack, Mirash M; Dragas, David D
Publication Date: 2021-06-20

Variant appearance in text: LEPR: K109R; rs1137100
PubMed Link: 34178553
Variant Present in the following documents:
  • Main text
  • cureus-0013-00000015766.pdf
View BVdb publication page



Genetic polymorphisms associated with obesity in the Arab world: a systematic review.

International Journal Of Obesity (2005)
Younes, Salma S; Ibrahim, Amal A; Al-Jurf, Rana R; Zayed, Hatem H
Publication Date: 2021-09

Variant appearance in text: LEPR: Lys109Arg; rs1137100
PubMed Link: 34131278
Variant Present in the following documents:
  • Main text
  • 41366_2021_Article_867.pdf
  • 41366_2021_867_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Variation and Immunohistochemical Localization of the Glucocorticoid Receptor in Breast Cancer Cases from the Breast Cancer Care in Chicago Cohort.

Cancers
Al-Alem, Umaima U; Mahmoud, Abeer M AM; Batai, Ken K; Shah-Williams, Ebony E; Gann, Peter H PH; Kittles, Rick R; Rauscher, Garth H GH
Publication Date: 2021-05-13

Variant appearance in text: rs1137100
PubMed Link: 34068181
Variant Present in the following documents:
  • Main text
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: LEPR: 326A>G; K109R; rs1137100
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Mitochondrial Mutations and Genetic Factors Determining NAFLD Risk.

International Journal Of Molecular Sciences
Dabravolski, Siarhei A SA; Bezsonov, Evgeny E EE; Baig, Mirza S MS; Popkova, Tatyana V TV; Nedosugova, Ludmila V LV; Starodubova, Antonina V AV; Orekhov, Alexander N AN
Publication Date: 2021-04-24

Variant appearance in text: LEPR: K109R
PubMed Link: 33923295
Variant Present in the following documents:
  • Main text
View BVdb publication page



LEP (-2548G>A LEP) and LEPR (223Gln>Arg, 109Lys>Arg) polymorphisms as breast cancer risk factors in the Polish female population.

Molecular Biology Reports
Hołysz, Hanna H; Paszel-Jaworska, Anna A; Romaniuk-Drapała, Aleksandra A; Grodecka-Gazdecka, Sylwia S; Rubiś, Błażej B
Publication Date: 2021-04

Variant appearance in text: LEPR: Lys109Arg; rs1137100
PubMed Link: 33864589
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dopaminergic Control of the Feeding Circuit.

Endocrinology And Metabolism (Seoul, Korea)
Baik, Ja-Hyun JH
Publication Date: 2021-04

Variant appearance in text: LEPR: Lys109Arg
PubMed Link: 33820393
Variant Present in the following documents:
  • Main text
View BVdb publication page



Leptin and Cancer: Updated Functional Roles in Carcinogenesis, Therapeutic Niches, and Developments.

International Journal Of Molecular Sciences
Lin, Tsung-Chieh TC; Hsiao, Michael M
Publication Date: 2021-03-11

Variant appearance in text: rs1137100
PubMed Link: 33799880
Variant Present in the following documents:
  • Main text
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: LEPR: K109R; rs1137100
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Polymorphisms in hormone-sensitive lipase and leptin receptor genes and their association with growth traits in Barki lambs.

Veterinary World
Ibrahim, Adel H M AHM
Publication Date: 2021-02

Variant appearance in text: LEPR: Lys109Arg
PubMed Link: 33776319
Variant Present in the following documents:
  • Main text
  • Vetworld-14-515.pdf
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: LEPR: 326A>G; K109R; rs1137100
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
  • pone.0249324.s003.xlsx, sheet 2
  • pone.0249324.s003.xlsx, sheet 3
View BVdb publication page



The Important Role of Leptin in Modulating the Risk of Dermatological Diseases.

Frontiers In Immunology
Su, Xin X; Cheng, Ye Y; Chang, Dong D
Publication Date: 2020

Variant appearance in text: rs1137100
PubMed Link: 33597945
Variant Present in the following documents:
  • Main text
  • fimmu-11-593564.pdf
View BVdb publication page



Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Publication Date: 2021-01-21

Variant appearance in text: LEPR: 326A>G; K109R; rs1137100
PubMed Link: 33478437
Variant Present in the following documents:
  • 12920_2021_871_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: rs1137100
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



The Inter-Relation between Leptin Receptor (Q223R) Gene Polymorphism and the Risk of Egyptian Patients with HCC.

Asian Pacific Journal Of Cancer Prevention : Apjcp
Karam, Hala A HA; Bessa, Sahar S SS; Ali, Ehab M M EMM; Diab, Thoria T; Mohamed, Tarek M TM
Publication Date: 2020-12-01

Variant appearance in text: LEPR: Lys109Arg; rs1137100
PubMed Link: 33369452
Variant Present in the following documents:
  • Main text
  • APJCP-21-3557.pdf
View BVdb publication page



Unraveling the Role of Leptin in Liver Function and Its Relationship with Liver Diseases.

International Journal Of Molecular Sciences
Martínez-Uña, Maite M; López-Mancheño, Yaiza Y; Diéguez, Carlos C; Fernández-Rojo, Manuel A MA; Novelle, Marta G MG
Publication Date: 2020-12-09

Variant appearance in text: LEPR: K109R
PubMed Link: 33316927
Variant Present in the following documents:
  • Main text
View BVdb publication page