Publications:

---

Genetic determinants of pancreatitis: relevance in severe hypertriglyceridemia.

Current Opinion In Lipidology

Hang, Shyann M T SMT; Hegele, Robert A RA; Berberich, Amanda J AJ

Publication Date: 2023-02-02

Variant appearance in text: CASR: Arg990Gly

PubMed Link: 36752614

Variant Present in the following documents:

• Main text
• colip-34-59.pdf

View BVdb publication page

---

A novel frameshift mutation in TRPV6 is associated with hereditary pancreatitis.

Frontiers In Genetics

Shah, Idrees A IA; Prasad, Hari H; Banerjee, Sanghita S; Kurien, Reuben Thomas RT; Chowdhury, Sudipta Dhar SD; Visweswariah, Sandhya S SS

Publication Date: 2022

Variant appearance in text: CASR: 2968A>G

PubMed Link: 36699452

Variant Present in the following documents:

• Main text
• Image1.pdf
• fgene-13-1058057.pdf

View BVdb publication page

---

A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience

Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX

Publication Date: 2022-12-22

Variant appearance in text: CASR: R990G

PubMed Link: 36536675

Variant Present in the following documents:

• mmc3.xls, sheet 1

View BVdb publication page

---

The calcium-sensing receptor in inflammation: Recent updates.

Frontiers In Physiology

Iamartino, Luca L; Brandi, Maria Luisa ML

Publication Date: 2022

Variant appearance in text: CASR: R990G

PubMed Link: 36467702

Variant Present in the following documents:

• fphys-13-1059369.pdf

View BVdb publication page

---

Epidemiology, Pathophysiology, and Genetics of Primary Hyperparathyroidism.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research

Minisola, Salvatore S; Arnold, Andrew A; Belaya, Zhanna Z; Brandi, Maria Luisa ML; Clarke, Bart L BL; Hannan, Fadil M FM; Hofbauer, Lorenz C LC; Insogna, Karl L KL; Lacroix, André A; Liberman, Uri U; Palermo, Andrea A; Pepe, Jessica J; Rizzoli, René R; Wermers, Robert R; Thakker, Rajesh V RV

Publication Date: 2022-11

Variant appearance in text: CASR: R990G

PubMed Link: 36245271

Variant Present in the following documents:

• JBMR-37-2315.pdf

View BVdb publication page

---

Genetic Polymorphisms and Kidney Stones Around the Globe: A Systematic Review and Meta-Analysis.

Frontiers In Genetics

Mohammadi, Abdolreza A; Shabestari, Alireza Namazi AN; Baghdadabad, Leila Zareian LZ; Khatami, Fatemeh F; Reis, Leonardo Oliveira LO; Pishkuhi, Mahin Ahmadi MA; Kazem Aghamir, Seyed Mohammad SM

Publication Date: 2022

Variant appearance in text: CASR: R990G; rs1042636

PubMed Link: 35846117

Variant Present in the following documents:

• Main text
• fgene-13-913908.pdf

View BVdb publication page

---

Identification of MAGEC2/CT10 as a High Calcium-Inducible Gene in Triple-Negative Breast Cancer.

Frontiers In Endocrinology

Beasley, Heather K HK; Widatalla, Sarrah E SE; Whalen, Diva S DS; Williams, Stephen D SD; Korolkova, Olga Y OY; Namba, Clementine C; Pratap, Siddharth S; Ochieng, Josiah J; Sakwe, Amos M AM

Publication Date: 2022

Variant appearance in text: CASR: R990G; rs1042636

PubMed Link: 35355564

Variant Present in the following documents:

• Main text
• fendo-13-816598.pdf

View BVdb publication page

---

Radiofrequency Ablation of Parathyroid Glands to Treat a Patient With Hypercalcemia Caused by a Novel Inactivating Mutation in CaSR.

Frontiers In Endocrinology

Hao, Yu Y; Lei, Zhikai Z; Shi, Nanjing N; Yu, Lingying L; Ji, Weiqin W; Zhang, Xianfeng X

Publication Date: 2021

Variant appearance in text: NSHPT: R990G

PubMed Link: 35095753

Variant Present in the following documents:

• Main text
• fendo-12-743517.pdf

View BVdb publication page

---

The Role of Gut Microbiota and Genetic Susceptibility in the Pathogenesis of Pancreatitis.

Gut And Liver

Xu, Fumin F; Yang, Chunmei C; Tang, Mingcheng M; Wang, Ming M; Cheng, Zhenhao Z; Chen, Dongfeng D; Chen, Xiao X; Liu, Kaijun K

Publication Date: 2022-09-15

Variant appearance in text: CASR: R990G

PubMed Link: 34911043

Variant Present in the following documents:

• gnl-16-5-686.pdf

View BVdb publication page

---

Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: CASR: R990G

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

---

Editorial: Bioinformatics of Genome Regulation, Volume II.

Frontiers In Genetics

Orlov, Yuriy L YL; Anashkina, Anastasia A AA; Tatarinova, Tatiana V TV; Baranova, Ancha V AV

Publication Date: 2021

Variant appearance in text: rs1042636

PubMed Link: 34819949

Variant Present in the following documents:

• Main text
• fgene-12-795257.pdf

View BVdb publication page

---

Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis.

Bmc Medical Genomics

Ullah, Ihsan I; Ottlewski, Isabel I; Shehzad, Wasim W; Riaz, Amjad A; Ijaz, Sadaqat S; Tufail, Asad A; Ammara, Hafiza H; Mane, Shrikant S; Shril, Shirlee S; Hildebrandt, Friedhelm F; Zahoor, Muhammad Yasir MY; Majmundar, Amar J AJ

Publication Date: 2021-11-12

Variant appearance in text: CASR: R990G

PubMed Link: 34772415

Variant Present in the following documents:

• 12920_2021_Article_1116.pdf

View BVdb publication page

---

Association between Polymorphisms in Vitamin D Pathway-Related Genes, Vitamin D Status, Muscle Mass and Function: A Systematic Review.

Nutrients

Krasniqi, Ermira E; Boshnjaku, Arben A; Wagner, Karl-Heinz KH; Wessner, Barbara B

Publication Date: 2021-09-04

Variant appearance in text: NSHPT: R990G; rs1042636

PubMed Link: 34578986

Variant Present in the following documents:

• nutrients-13-03109.pdf

View BVdb publication page

---

The impact of CASR A990G polymorphism in response to cinacalcet treatment in hemodialysis patients with secondary hyperparathyroidism.

Scientific Reports

Ngamkam, Jaruwan J; Vadcharavivad, Somratai S; Areepium, Nutthada N; Auamnoy, Titinun T; Takkavatakarn, Kullaya K; Katavetin, Pisut P; Tiranathanagul, Khajohn K; Praditpornsilpa, Kearkiat K; Eiam-Ong, Somchai S; Susantitaphong, Paweena P

Publication Date: 2021-09-09

Variant appearance in text: CASR: 2968A>G; rs1042636

PubMed Link: 34504264

Variant Present in the following documents:

• Main text
• 41598_2021_Article_97587.pdf

View BVdb publication page

---

Polymorphisms Contributing to Calcium Status: A Systematic Review.

Nutrients

da Silva Lopes, Katharina K; Abe, Sarah Krull SK

Publication Date: 2021-07-21

Variant appearance in text: CASR: Arg990Gly; rs1042636

PubMed Link: 34444650

Variant Present in the following documents:

• Main text
• nutrients-13-02488.pdf

View BVdb publication page

---

Novel Gene Mutations Regulating Immune Responses in Autoimmune Polyglandular Syndrome With an Atypical Course.

Journal Of The Endocrine Society

Yukina, Marina M; Erofeeva, Taisia T; Nuralieva, Nurana N; Andreeva, Tatiana T; Savvateeva, Elena E; Dudko, Natalia N; Troshina, Ekaterina E; Rogaev, Evgeny E; Melnichenko, Galina G

Publication Date: 2021-08-01

Variant appearance in text: rs1042636

PubMed Link: 34235359

Variant Present in the following documents:

• Main text
• bvab077.pdf

View BVdb publication page

---

Association of CASR, CALCR, and ORAI1 Genes Polymorphisms With the Calcium Urolithiasis Development in Russian Population.

Frontiers In Genetics

Litvinova, Maria M MM; Khafizov, Kamil K; Korchagin, Vitaly I VI; Speranskaya, Anna S AS; Asanov, Aliy Yu AY; Matsvay, Alina D AD; Kiselev, Daniil A DA; Svetlichnaya, Diana V DV; Nuralieva, Sevda Z SZ; Moskalev, Alexey A AA; Filippova, Tamara V TV

Publication Date: 2021

Variant appearance in text: CASR: Arg990Gly; rs1042636

PubMed Link: 34054913

Variant Present in the following documents:

• Main text
• fgene-12-621049.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: CASR: 2968A>G; R990G; rs1042636

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Genetic polymorphisms as prognostic factors for recurrent kidney stones: A systematic review and meta-analysis.

Plos One

Atmoko, Widi W; Raharja, Putu Angga Risky PAR; Birowo, Ponco P; Hamid, Agus Rizal Ardy Hariandy ARAH; Taher, Akmal A; Rasyid, Nur N

Publication Date: 2021

Variant appearance in text: CASR: R990G

PubMed Link: 33956883

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Calcium-Sensing Receptor (CaSR), Its Impact on Inflammation and the Consequences on Cardiovascular Health.

International Journal Of Molecular Sciences

Sundararaman, Sai Sahana SS; van der Vorst, Emiel P C EPC

Publication Date: 2021-03-01

Variant appearance in text: FHH: R990G

PubMed Link: 33804544

Variant Present in the following documents:

• ijms-22-02478.pdf

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: rs1042636

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Rare diseases caused by abnormal calcium sensing and signalling.

Endocrine

Tőke, Judit J; Czirják, Gábor G; Enyedi, Péter P; Tóth, Miklós M

Publication Date: 2021-03

Variant appearance in text: FHH: R990G; rs1042636

PubMed Link: 33528764

Variant Present in the following documents:

• Main text
• 12020_2021_Article_2620.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: CASR: 2968A>G; R990G; rs1042636

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

---

Genetics of 35 blood and urine biomarkers in the UK Biobank.

Nature Genetics

Sinnott-Armstrong, Nasa N; Tanigawa, Yosuke Y; Amar, David D; Mars, Nina N; Benner, Christian C; Aguirre, Matthew M; Venkataraman, Guhan Ram GR; Wainberg, Michael M; Ollila, Hanna M HM; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Pirruccello, James P JP; Qian, Junyang J; Shcherbina, Anna A; , ; Rodriguez, Fatima F; Assimes, Themistocles L TL; Agarwala, Vineeta V; Tibshirani, Robert R; Hastie, Trevor T; Ripatti, Samuli S; Pritchard, Jonathan K JK; Daly, Mark J MJ; Rivas, Manuel A MA

Publication Date: 2021-02

Variant appearance in text: CASR: 2968A>G; Arg990Gly; rs1042636

PubMed Link: 33462484

Variant Present in the following documents:

• NIHMS1651539-supplement-2.xlsx, sheet 21

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: CASR: R990G; rs1042636

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

---

A novel loss-of-function mutation of PBK associated with human kidney stone disease.

Scientific Reports

Nettuwakul, Choochai C; Sawasdee, Nunghathai N; Praditsap, Oranud O; Rungroj, Nanyawan N; Pasena, Arnat A; Dechtawewat, Thanyaporn T; Deejai, Nipaporn N; Sritippayawan, Suchai S; Rojsatapong, Santi S; Chaowagul, Wipada W; Yenchitsomanus, Pa-Thai PT

Publication Date: 2020-06-24

Variant appearance in text: CASR: R990G

PubMed Link: 32581305

Variant Present in the following documents:

• 41598_2020_Article_66936.pdf

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: CASR: R990G; rs1042636

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

---

Calcium-Sensing Receptor Gene Polymorphisms (CASRV1 and CASRV2) and the Physical Activity Level of Men in Lower Silesia, Poland.

Frontiers In Genetics

Zagrodna, Aleksandra A; Ksia Żek, Anna A; Słowińska-Lisowska, Małgorzata M; Łaczmański, Łukasz Ł

Publication Date: 2020

Variant appearance in text: CASR: R990G

PubMed Link: 32373159

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Disordered Gut Microbiota in Children Who Have Chronic Pancreatitis and Different Functional Gene Mutations.

Clinical And Translational Gastroenterology

Wang, Wei W; Xiao, Yuan Y; Wang, Xinqiong X; Zhou, Yiran Y; Wang, Ting T; Xv, Chundi C; Shen, Bai-Yong BY

Publication Date: 2020-03

Variant appearance in text: CASR: R990G

PubMed Link: 32352720

Variant Present in the following documents:

• ct9-11-e00150.pdf

View BVdb publication page

---

Genome-wide Association Study of 24-Hour Urinary Excretion of Calcium, Magnesium, and Uric Acid.

Mayo Clinic Proceedings. Innovations, Quality & Outcomes

Ware, Erin B EB; Smith, Jennifer A JA; Zhao, Wei W; Ganesvoort, Ron T RT; Curhan, Gary C GC; Pollak, Martin M; Mount, David B DB; Turner, Stephen T ST; Chen, Guotao G; Shah, Ronak Jagdeep RJ; Kardia, Sharon L R SLR; Lieske, John C JC

Publication Date: 2019-12

Variant appearance in text: rs1042636

PubMed Link: 31993563

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Calcium-sensing receptor gene (CASR) polymorphisms and CASR transcript level concerning dyslipidemia in hemodialysis patients: a cross-sectional study.

Bmc Nephrology

Grzegorzewska, Alicja E AE; Frycz, Bartosz A BA; Świderska, Monika M; Niepolski, Leszek L; Mostowska, Adrianna A; Jagodziński, Paweł P PP

Publication Date: 2019-11-27

Variant appearance in text: CASR: R990G; rs1042636

PubMed Link: 31775661

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The rs1256328 (ALPL) and rs12654812 (RGS14) Polymorphisms are Associated with Susceptibility to Calcium Nephrolithiasis in a Taiwanese population.

Scientific Reports

Chen, Wei-Chiao WC; Chou, Wan-Hsuan WH; Chu, Hou-Wei HW; Huang, Chi-Chen CC; Liu, Xiao X; Chang, Wei-Pin WP; Chou, Yii-Her YH; Chang, Wei-Chiao WC

Publication Date: 2019-11-21

Variant appearance in text: CASR: Arg990Gly; rs1042636

PubMed Link: 31754202

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Renal Ca2+ and Water Handling in Response to Calcium Sensing Receptor Signaling: Physiopathological Aspects and Role of CaSR-Regulated microRNAs.

International Journal Of Molecular Sciences

Ranieri, Marianna M

Publication Date: 2019-10-27

Variant appearance in text: FHH: R990G

PubMed Link: 31717830

Variant Present in the following documents:

• Main text
• ijms-20-05341.pdf

View BVdb publication page

---

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: rs1042636

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

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: CASR: R990G; rs1042636

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

---

A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: CASR: R990G; rs1042636

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

---

Genetics, Cell Biology, and Pathophysiology of Pancreatitis.

Gastroenterology

Mayerle, Julia J; Sendler, Matthias M; Hegyi, Eszter E; Beyer, Georg G; Lerch, Markus M MM; Sahin-Tóth, Miklós M

Publication Date: 2019-05

Variant appearance in text: CASR: R990G

PubMed Link: 30660731

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia.

Endocrinology, Diabetes & Metabolism Case Reports

García-Castaño, Alejandro A; Madariaga, Leire L; Azriel, Sharona S; Pérez de Nanclares, Gustavo G; Martínez de LaPiscina, Idoia I; Martínez, Rosa R; Urrutia, Inés I; Aguayo, Aníbal A; Gaztambide, Sonia S; Castaño, Luis L

Publication Date: 2018

Variant appearance in text: CASR: Arg990Gly

PubMed Link: 30530875

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: CASR: R990G; rs1042636

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.

Nature Reviews. Endocrinology

Hannan, Fadil M FM; Kallay, Enikö E; Chang, Wenhan W; Brandi, Maria Luisa ML; Thakker, Rajesh V RV

Publication Date: 2018-12

Variant appearance in text: CASR: Arg990Gly

PubMed Link: 30443043

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetic polymorphism (rs6776158) in CaSR gene is associated with risk of nephrolithiasis in Chinese population.

Medicine

Zhou, Hai H; Huang, Huaxing H; You, Zebin Z; Shadhu, Kamleshsingh K; Ramlagun, Dadhija D; Qiang, Cao C; Li, Pu P; Qi, Lezhong L; Shen, Yuyong Y; Zhou, Ming M; Chen, Yuming Y; Fei, Shangchun S; Wang, Xiaoxiang X

Publication Date: 2018-11

Variant appearance in text: CASR: R990G; rs1042636

PubMed Link: 30407299

Variant Present in the following documents:

• Main text
• medi-97-e13037.pdf

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: rs1042636

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

---

Calcium-sensing receptor in colorectal inflammation and cancer: Current insights and future perspectives.

World Journal Of Gastroenterology

Iamartino, Luca L; Elajnaf, Taha T; Kallay, Enikö E; Schepelmann, Martin M

Publication Date: 2018-09-28

Variant appearance in text: CASR: R990G

PubMed Link: 30271078

Variant Present in the following documents:

• Main text
• WJG-24-4119.pdf

View BVdb publication page

---

Personalized Management of Bone and Mineral Disorders and Precision Medicine in End-Stage Kidney Disease.

Seminars In Nephrology

Jovanovich, Anna A; Kendrick, Jessica J

Publication Date: 2018-07

Variant appearance in text: rs1042636

PubMed Link: 30082059

Variant Present in the following documents:

• Main text

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: CASR: 2968A>G; R990G; rs1042636

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 3
• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

---

Effects of genetic variants on serum parathyroid hormone in hyperparathyroidism and end-stage renal disease patients: A systematic review and meta-analysis.

Medicine

Matana, Antonela A; Popović, Marijana M; Torlak, Vesela V; Punda, Ante A; Barbalić, Maja M; Zemunik, Tatijana T

Publication Date: 2018-05

Variant appearance in text: NSHPT: R990G; rs1042636

PubMed Link: 29794776

Variant Present in the following documents:

• Main text
• medi-97-e10834.pdf

View BVdb publication page

---

Quantitative assessment of the clinical susceptibility of calcium-sensing receptor polymorphisms in cancer patients.

Cancer Management And Research

Huang, Haohai H; Li, Tao T; Liao, Dan D; Zhu, Zhu Z; Dong, Yong Y

Publication Date: 2018

Variant appearance in text: CASR: R990G; rs1042636

PubMed Link: 29695932

Variant Present in the following documents:

• cmar-10-755.pdf

View BVdb publication page

---