LEPR c.-97+590A>C

Variant ID: 1-65887013-A-C

NM_002303.6(LEPR):c.-97+590A>C

This variant was identified in 19 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: rs12145690
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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: rs12145690
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
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: rs12145690
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: rs12145690
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Association between SNPs in Leptin Pathway Genes and Anthropometric, Biochemical, and Dietary Markers Related to Obesity.

Genes
Cadena-López, Ricardo Omar RO; Hernández-Rodríguez, Lourdes Vanessa LV; Aguilar-Galarza, Adriana A; García-Muñoz, Willebaldo W; Haddad-Talancón, Lorenza L; Anzures-Cortes, Ma de Lourdes ML; Velázquez-Sánchez, Claudia C; Flores-Viveros, Karla Lucero KL; Anaya-Loyola, Miriam Aracely MA; García-Gasca, Teresa T; Rodríguez-García, Víctor Manuel VM; Moreno-Celis, Ulisses U
Publication Date: 2022-05-25

Variant appearance in text: rs12145690
PubMed Link: 35741707
Variant Present in the following documents:
  • Main text
  • genes-13-00945.pdf
View BVdb publication page



Energy homeostasis genes modify the association between serum concentrations of IGF-1 and IGFBP-3 and breast cancer risk.

Scientific Reports
Rodríguez-Valentín, Rocío R; Torres-Mejía, Gabriela G; Martínez-Matsushita, Louis L; Angeles-Llerenas, Angélica A; Gómez-Flores-Ramos, Liliana L; Wolff, Roger K RK; Baumgartner, Kathy B KB; Hines, Lisa M LM; Ziv, Elad E; Flores-Luna, Lourdes L; Sánchez-Zamorano, Luisa Ma LM; Ortiz-Panozo, Eduardo E; Slattery, Martha L ML
Publication Date: 2022-02-03

Variant appearance in text: rs12145690
PubMed Link: 35115550
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_5496.pdf
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: rs12145690
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: rs12145690
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: rs12145690
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Candidate Gene and Genome-Wide Association Studies for Circulating Leptin Levels Reveal Population and Sex-Specific Associations in High Cardiovascular Risk Mediterranean Subjects.

Nutrients
Ortega-Azorín, Carolina C; Coltell, Oscar O; Asensio, Eva M EM; Sorlí, Jose V JV; González, José I JI; Portolés, Olga O; Saiz, Carmen C; Estruch, Ramon R; Ramírez-Sabio, Judith B JB; Pérez-Fidalgo, Alejandro A; Ordovas, Jose M JM; Corella, Dolores D
Publication Date: 2019-11-13

Variant appearance in text: rs12145690
PubMed Link: 31766143
Variant Present in the following documents:
  • Main text
  • nutrients-11-02751.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: rs12145690
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
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: LEPROT: 16+590A>C; rs12145690
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs12145690
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: rs12145690
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 3
  • MGG3-6-739-s002.xlsx, sheet 6
  • MGG3-6-739-s002.xlsx, sheet 7
  • MGG3-6-739-s002.xlsx, sheet 4
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs12145690
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Energy homeostasis genes and breast cancer risk: The influence of ancestry, body size, and menopausal status, the breast cancer health disparities study.

Cancer Epidemiology
Slattery, Martha L ML; Lundgreen, Abbie A; Hines, Lisa L; Wolff, Roger K RK; Torres-Mejia, Gabriella G; Baumgartner, Kathy N KN; John, Esther M EM
Publication Date: 2015-12

Variant appearance in text: rs12145690
PubMed Link: 26395295
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lack of correlation between in silico projection of function and quantitative real-time PCR-determined gene expression levels in colon tissue.

Pharmacogenomics And Personalized Medicine
Penney, Rosalind B RB; Lundgreen, Abbie A; Yao-Borengasser, Aiwei A; Koroth-Edavana, Vineetha V; Williams, Suzanne S; Wolff, Roger R; Slattery, Martha L ML; Kadlubar, Susan S
Publication Date: 2013

Variant appearance in text: rs12145690
PubMed Link: 24101876
Variant Present in the following documents:
  • Main text
  • pgpm-6-099.pdf
View BVdb publication page



Variation in genes related to obesity, weight, and weight change and risk of contralateral breast cancer in the WECARE Study population.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Brooks, Jennifer D JD; Bernstein, Leslie L; Teraoka, Sharon N SN; Knight, Julia A JA; Mellemkjær, Lene L; John, Esther M EM; Malone, Kathleen E KE; Reiner, Anne S AS; Lynch, Charles F CF; Concannon, Patrick P; Haile, Robert W RW; Bernstein, Jonine L JL; ,
Publication Date: 2012-12

Variant appearance in text: rs12145690
PubMed Link: 23033454
Variant Present in the following documents:
  • Main text
View BVdb publication page



Leptin and leptin receptor genes in relation to premenopausal breast cancer incidence and grade in Caucasian women.

Breast Cancer Research And Treatment
Gu, Fangyi F; Kraft, Peter P; Rice, Megan M; Michels, Karin B KB
Publication Date: 2012-01

Variant appearance in text: rs12145690
PubMed Link: 21947707
Variant Present in the following documents:
  • Main text
View BVdb publication page