Publications:

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: LEP: R105W; rs104894023

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: LEP: 313C>T; Arg105Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.

Human Genome Variation

Shiga, Naomi N; Yamaguchi-Kabata, Yumi Y; Igeta, Saori S; Yasuda, Jun J; Tadaka, Shu S; Minato, Takamichi T; Watanabe, Zen Z; Kanno, Junko J; Tamiya, Gen G; Fuse, Nobuo N; Kinoshita, Kengo K; Kure, Shigeo S; Kondo, Akiko A; Tachibana, Masahito M; Yamamoto, Masayuki M; Yaegashi, Nobuo N; Sugawara, Junichi J

Publication Date: 2022-09-28

Variant appearance in text: LEP: Arg105Trp; rs104894023

PubMed Link: 36171209

Variant Present in the following documents:

• 41439_2022_213_MOESM2_ESM.xlsx, sheet 1

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Prevalence estimates of putatively pathogenic leptin variants in the gnomAD database.

Plos One

Rajcsanyi, Luisa Sophie LS; Zheng, Yiran Y; Fischer-Posovszky, Pamela P; Wabitsch, Martin M; Hebebrand, Johannes J; Hinney, Anke A

Publication Date: 2022

Variant appearance in text: LEP: Arg105Trp

PubMed Link: 36121795

Variant Present in the following documents:

• pone.0266642.s003.pdf

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Effects of childhood obesity and related genetic factors on precocious puberty: protocol for a multi-center prospective cohort study.

Bmc Pediatrics

Yu, Tingting T; Yu, Ying Y; Li, Xiaoqing X; Xue, Peng P; Yu, Xiaodan X; Chen, Yao Y; Kong, Huijun H; Lin, Cuilan C; Wang, Xiumin X; Mei, Hao H; Wang, Dan D; Liu, Shijian S

Publication Date: 2022-05-27

Variant appearance in text: rs104894023

PubMed Link: 35624438

Variant Present in the following documents:

• Main text
• 12887_2022_Article_3350.pdf

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Leptin Signaling in Obesity and Colorectal Cancer.

International Journal Of Molecular Sciences

Socol, Claudia Terezia CT; Chira, Alexandra A; Martinez-Sanchez, Maria Antonia MA; Nuñez-Sanchez, Maria Angeles MA; Maerescu, Cristina Maria CM; Mierlita, Daniel D; Rusu, Alexandru Vasile AV; Ruiz-Alcaraz, Antonio Jose AJ; Trif, Monica M; Ramos-Molina, Bruno B

Publication Date: 2022-04-24

Variant appearance in text: LEP: 313C>T; R105W

PubMed Link: 35563103

Variant Present in the following documents:

• Main text
• ijms-23-04713.pdf

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs104894023

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs104894023

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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When Leptin Is Not There: A Review of What Nonsyndromic Monogenic Obesity Cases Tell Us and the Benefits of Exogenous Leptin.

Frontiers In Endocrinology

Salum, Kaio Cezar Rodrigues KCR; Rolando, Jônatas de Mendonça JM; Zembrzuski, Verônica Marques VM; Carneiro, João Regis Ivar JRI; Mello, Cicero Brasileiro CB; Maya-Monteiro, Clarissa Menezes CM; Bozza, Patrícia Torres PT; Kohlrausch, Fabiana Barzotto FB; da Fonseca, Ana Carolina Proença ACP

Publication Date: 2021

Variant appearance in text: LEP: Arg105Trp

PubMed Link: 34504472

Variant Present in the following documents:

• Main text

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A fresh look to the phenotype in mono-allelic likely pathogenic variants of the leptin and the leptin receptor gene.

Molecular And Cellular Pediatrics

Koerber-Rosso, Ingrid I; Brandt, Stephanie S; von Schnurbein, Julia J; Fischer-Posovszky, Pamela P; Hoegel, Josef J; Rabenstein, Hannah H; Siebert, Reiner R; Wabitsch, Martin M

Publication Date: 2021-08-26

Variant appearance in text: LEP: R105W

PubMed Link: 34448070

Variant Present in the following documents:

• Main text
• 40348_2021_Article_119.pdf

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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: LEP: 313C>T; rs104894023

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

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: LEP: 313C>T; R105W

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: LEP: 313C>T

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: LEP: R105W

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: LEP: R105W

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1

View BVdb publication page

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Prediction and Structural Comparison of Deleterious Coding Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in Human LEP Gene Associated with Obesity.

Biomed Research International

Bouafi, Hind H; Bencheikh, Sara S; Mehdi Krami, A L AL; Morjane, Imane I; Charoute, Hicham H; Rouba, Hassan H; Saile, Rachid R; Benhnini, Fouad F; Barakat, Abdelhamid A

Publication Date: 2019

Variant appearance in text: LEP: R105W; rs104894023

PubMed Link: 31871931

Variant Present in the following documents:

• Main text

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Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.

Nature Medicine

Baron, Morgane M; Maillet, Julie J; Huyvaert, Marlène M; Dechaume, Aurélie A; Boutry, Raphaël R; Loiselle, Hélène H; Durand, Emmanuelle E; Toussaint, Bénédicte B; Vaillant, Emmanuel E; Philippe, Julien J; Thomas, Jérémy J; Ghulam, Amjad A; Franc, Sylvia S; Charpentier, Guillaume G; Borys, Jean-Michel JM; Lévy-Marchal, Claire C; Tauber, Maïthé M; Scharfmann, Raphaël R; Weill, Jacques J; Aubert, Cécile C; Kerr-Conte, Julie J; Pattou, François F; Roussel, Ronan R; Balkau, Beverley B; Marre, Michel M; Boissel, Mathilde M; Derhourhi, Mehdi M; Gaget, Stefan S; Canouil, Mickaël M; Froguel, Philippe P; Bonnefond, Amélie A

Publication Date: 2019-11

Variant appearance in text: LEP: R105W

PubMed Link: 31700171

Variant Present in the following documents:

• EMS84473-supplement-Supplementary_Tables.pdf

View BVdb publication page

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Candidate gene polymorphisms related to lipid metabolism in Asian Indians living in Durban, South Africa.

The Indian Journal Of Medical Research

Maistry, Tanya T; Gordon, Michelle M; Sartorius, Benn B; Naidoo, Datshana P DP

Publication Date: 2018-08

Variant appearance in text: rs104894023

PubMed Link: 30381540

Variant Present in the following documents:

• Main text
• IJMR-148-169.pdf

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A novel mutation in the leptin gene (W121X) in an Egyptian family.

Molecular Genetics And Metabolism Reports

Mazen, Inas I; Amr, Khalda K; Tantawy, Sally S; Farooqi, I Sadaf IS; El Gammal, Mona M

Publication Date: 2014

Variant appearance in text: LEP: R105W

PubMed Link: 27896126

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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The 14th Ile residue is essential for Leptin function in regulating energy homeostasis in rat.

Scientific Reports

Xu, Shuyang S; Zhu, Xianmin X; Li, Hong H; Hu, Youtian Y; Zhou, Jinping J; He, Di D; Feng, Yun Y; Lu, Lina L; Du, Guizhen G; Hu, Youjin Y; Liu, Tiancheng T; Wang, Zhen Z; Ding, Guohui G; Chen, Jiayu J; Gao, Shaorong S; Wu, Fang F; Xue, Zhigang Z; Li, Yixue Y; Fan, Guoping G

Publication Date: 2016-07-05

Variant appearance in text: LEP: R105W

PubMed Link: 27378381

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: LEP: R105W

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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The Effects of Leptin Replacement on Neural Plasticity.

Neural Plasticity

Paz-Filho, Gilberto J GJ

Publication Date: 2016

Variant appearance in text: LEP: Arg105Trp

PubMed Link: 26881138

Variant Present in the following documents:

• Main text

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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: rs104894023

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Monogenic forms of childhood obesity due to mutations in the leptin gene.

Molecular And Cellular Pediatrics

Funcke, Jan-Bernd JB; von Schnurbein, Julia J; Lennerz, Belinda B; Lahr, Georgia G; Debatin, Klaus-Michael KM; Fischer-Posovszky, Pamela P; Wabitsch, Martin M

Publication Date: 2014-12

Variant appearance in text: LEP: 313C>T; R105W

PubMed Link: 26567097

Variant Present in the following documents:

• Main text
• 40348_2014_Article_3.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: LEP: R105W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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A novel mutation in leptin gene is associated with severe obesity in Chinese individuals.

Biomed Research International

Zhao, Yue Y; Hong, Nanchao N; Liu, Xiao X; Wu, Beibei B; Tang, Shanshan S; Yang, Jianjun J; Hu, Cheng C; Jia, Weiping W

Publication Date: 2014

Variant appearance in text: LEP: R105W

PubMed Link: 24707501

Variant Present in the following documents:

• Main text
• BMRI2014-912052.pdf

View BVdb publication page

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An overview of mongenic and syndromic obesities in humans.

Pediatric Blood & Cancer

Chung, Wendy K WK

Publication Date: 2012-01

Variant appearance in text: LEP: Arg105Trp

PubMed Link: 21994130

Variant Present in the following documents:

• Main text

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Common variants in the 5' region of the leptin gene are associated with body mass index in men from the National Heart, Lung, and Blood Institute Family Heart Study.

American Journal Of Human Genetics

Jiang, Y Y; Wilk, J B JB; Borecki, I I; Williamson, S S; DeStefano, A L AL; Xu, G G; Liu, J J; Ellison, R C RC; Province, M M; Myers, R H RH

Publication Date: 2004-08

Variant appearance in text: LEP: Arg105Trp

PubMed Link: 15197684

Variant Present in the following documents:

• Main text

View BVdb publication page

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