PTH c.87-50G>A

Variant ID: 11-13514263-C-T

NM_000315.2(PTH):c.87-50G>A

This variant was identified in 14 publications

View GRCh38 version.




Publications:


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: rs6254
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



PTHR1 Genetic Polymorphisms Are Associated with Osteoporosis among Postmenopausal Arab Women.

Biomed Research International
Abdi, Saba S; Almiman, Abeer Abdulaziz AA; Ansari, Mohammed Ghouse Ahmed MGA; Alnaami, Abdullah M AM; Mohammed, Abdul Khader AK; Aljohani, Naji J NJ; Alenad, Amal A; Alghamdi, Amani A; Alokail, Majed S MS; Al-Daghri, Nasser M NM
Publication Date: 2021

Variant appearance in text: rs6254
PubMed Link: 34977236
Variant Present in the following documents:
  • Main text
  • BMRI2021-2993761.pdf
View BVdb publication page



Fragmentation patterns and personalized sequencing of cell-free DNA in urine and plasma of glioma patients.

Embo Molecular Medicine
Mouliere, Florent F; Smith, Christopher G CG; Heider, Katrin K; Su, Jing J; van der Pol, Ymke Y; Thompson, Mareike M; Morris, James J; Wan, Jonathan C M JCM; Chandrananda, Dineika D; Hadfield, James J; Grzelak, Marta M; Hudecova, Irena I; Couturier, Dominique-Laurent DL; Cooper, Wendy W; Zhao, Hui H; Gale, Davina D; Eldridge, Matthew M; Watts, Colin C; Brindle, Kevin K; Rosenfeld, Nitzan N; Mair, Richard R
Publication Date: 2021-08-09

Variant appearance in text: PTH: 87-50G>A; rs6254
PubMed Link: 34291583
Variant Present in the following documents:
  • EMMM-13-e12881-s010.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: rs6254
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.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: rs6254
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_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: PTH: 87-50G>A; rs6254
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.

Nature Communications
North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ
Publication Date: 2018-05-14

Variant appearance in text: rs6254
PubMed Link: 29760388
Variant Present in the following documents:
  • 41467_2018_4008_MOESM3_ESM.xlsx, sheet 25
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: rs6254
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs6254
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
View BVdb publication page



Comparison of classification algorithms with wrapper-based feature selection for predicting osteoporosis outcome based on genetic factors in a taiwanese women population.

International Journal Of Endocrinology
Chang, Hsueh-Wei HW; Chiu, Yu-Hsien YH; Kao, Hao-Yun HY; Yang, Cheng-Hong CH; Ho, Wen-Hsien WH
Publication Date: 2013

Variant appearance in text: rs6254
PubMed Link: 23401685
Variant Present in the following documents:
  • Main text
View BVdb publication page



Both baseline clinical factors and genetic polymorphisms influence the development of severe functional status in ankylosing spondylitis.

Plos One
Schiotis, Ruxandra R; Bartolomé, Nerea N; Sánchez, Alejandra A; Szczypiorska, Magdalena M; Sanz, Jesús J; Cuende, Eduardo E; Collantes Estevez, Eduardo E; Martínez, Antonio A; Tejedor, Diego D; Artieda, Marta M; Buzoianu, Anca A; Mulero, Juan J
Publication Date: 2012

Variant appearance in text: rs6254
PubMed Link: 22984424
Variant Present in the following documents:
  • Main text
  • pone.0043428.pdf
View BVdb publication page



A PAI-1 (SERPINE1) polymorphism predicts osteonecrosis in children with acute lymphoblastic leukemia: a report from the Children's Oncology Group.

Blood
French, Deborah D; Hamilton, Leo H LH; Mattano, Leonard A LA; Sather, Harland N HN; Devidas, Meenakshi M; Nachman, James B JB; Relling, Mary V MV; ,
Publication Date: 2008-05-01

Variant appearance in text: rs6254
PubMed Link: 18285546
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of bone morphogenetic proteins with otosclerosis.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research
Schrauwen, Isabelle I; Thys, Melissa M; Vanderstraeten, Kathleen K; Fransen, Erik E; Dieltjens, Nele N; Huyghe, Jeroen R JR; Ealy, Megan M; Claustres, Mireille M; Cremers, Cor R W J CR; Dhooge, Ingeborg I; Declau, Frank F; Van de Heyning, Paul P; Vincent, Robert R; Somers, Thomas T; Offeciers, Erwin E; Smith, Richard J H RJ; Van Camp, Guy G
Publication Date: 2008-04

Variant appearance in text: rs6254
PubMed Link: 18021008
Variant Present in the following documents:
  • Main text
View BVdb publication page