Publications:

---

Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.

International Journal Of Molecular Sciences

Glotov, Oleg S OS; Savostyanov, Kirill V KV; Nagornova, Tatyana S TS; Chernov, Alexandr N AN; Fedyakov, Mikhail A MA; Raspopova, Aleksandra N AN; Krasnoukhov, Konstantin N KN; Danilov, Lavrentii G LG; Moiseeva, Nadegda V NV; Kalinin, Roman S RS; Tsai, Victoria V VV; Eismont, Yuri A YA; Voinova, Victoria Y VY; Vitebskaya, Alisa V AV; Gurkina, Elena Y EY; Kuzenkova, Ludmila M LM; Sosnina, Irina B IB; Pushkov, Alexander A AA; Zhanin, Ilya S IS; Zakharova, Ekaterina Y EY

Publication Date: 2022-10-26

Variant appearance in text: 225: 1216G>A

PubMed Link: 36361766

Variant Present in the following documents:

• ijms-23-12976.pdf

View BVdb publication page

---

CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience

Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X

Publication Date: 2022-09-16

Variant appearance in text: 225: 1216G>A

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

---

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: 225: A406T

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 6

View BVdb publication page

---

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: 225: A406T

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 6

View BVdb publication page

---

Phenethylamine is a substrate of monoamine oxidase B in the paraventricular thalamic nucleus.

Scientific Reports

Obata, Youhei Y; Kubota-Sakashita, Mie M; Kasahara, Takaoki T; Mizuno, Masafumi M; Nemoto, Takahiro T; Kato, Tadafumi T

Publication Date: 2022-01-07

Variant appearance in text: 225: 1216G>A

PubMed Link: 34996979

Variant Present in the following documents:

• 41598_2021_3885_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

---

Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer

Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T

Publication Date: 2021-10

Variant appearance in text: 225: 1216G>A

PubMed Link: 34738089

Variant Present in the following documents:

• NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1

View BVdb publication page

---

Transcriptomic and proteomic analysis of pyrethroid resistance in the CKR strain of Aedes aegypti.

Plos Neglected Tropical Diseases

Sun, Haina H; Mertz, Robert W RW; Smith, Letícia B LB; Scott, Jeffrey G JG

Publication Date: 2021-11

Variant appearance in text: 225: 1216G>A

PubMed Link: 34723971

Variant Present in the following documents:

• pntd.0009871.s007.xlsx, sheet 1

View BVdb publication page

---

High-density genetic linkage-map construction of hawthorn and QTL mapping for important fruit traits.

Plos One

Zhao, Yuhui Y; Zhao, Yidi Y; Guo, Yinshan Y; Su, Kai K; Shi, Xiaochang X; Liu, Di D; Zhang, Jijun J

Publication Date: 2020

Variant appearance in text: 225: 1216G>A

PubMed Link: 32045463

Variant Present in the following documents:

• pone.0229020.s004.xlsx, sheet 1

View BVdb publication page

---

Identification of Single Nucleotide Polymorphism in Red Clover (Trifolium pratense L.) Using Targeted Genomic Amplicon Sequencing and RNA-seq.

Frontiers In Plant Science

Li, Wenli W; Riday, Heathcliffe H; Riehle, Christina C; Edwards, Andrea A; Dinkins, Randy R

Publication Date: 2019

Variant appearance in text: 225: 1216G>A

PubMed Link: 31708937

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 1

View BVdb publication page

---

Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: 225: 1216G>A

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1

View BVdb publication page

---

Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: 225: A406T

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

---

Chance and necessity in the genome evolution of endosymbiotic bacteria of insects.

The Isme Journal

Sabater-Muñoz, Beatriz B; Toft, Christina C; Alvarez-Ponce, David D; Fares, Mario A MA

Publication Date: 2017-06

Variant appearance in text: 225: A406T

PubMed Link: 28323281

Variant Present in the following documents:

• ismej201718x6.pdf

View BVdb publication page

---

KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.

Plos One

Zhao, Jiandong J; Yuan, Yongyi Y; Huang, Shasha S; Huang, Bangqing B; Cheng, Jing J; Kang, Dongyang D; Wang, Guojian G; Han, Dongyi D; Dai, Pu P

Publication Date: 2014

Variant appearance in text: 225: 1216G>A

PubMed Link: 25372295

Variant Present in the following documents:

• Main text
• pone.0108134.pdf

View BVdb publication page

---

Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer.

Elife

Ju, Young Seok YS; Alexandrov, Ludmil B LB; Gerstung, Moritz M; Martincorena, Inigo I; Nik-Zainal, Serena S; Ramakrishna, Manasa M; Davies, Helen R HR; Papaemmanuil, Elli E; Gundem, Gunes G; Shlien, Adam A; Bolli, Niccolo N; Behjati, Sam S; Tarpey, Patrick S PS; Nangalia, Jyoti J; Massie, Charles E CE; Butler, Adam P AP; Teague, Jon W JW; Vassiliou, George S GS; Green, Anthony R AR; Du, Ming-Qing MQ; Unnikrishnan, Ashwin A; Pimanda, John E JE; Teh, Bin Tean BT; Munshi, Nikhil N; Greaves, Mel M; Vyas, Paresh P; El-Naggar, Adel K AK; Santarius, Tom T; Collins, V Peter VP; Grundy, Richard R; Taylor, Jack A JA; Hayes, D Neil DN; Malkin, David D; , ; , ; , ; Foster, Christopher S CS; Warren, Anne Y AY; Whitaker, Hayley C HC; Brewer, Daniel D; Eeles, Rosalind R; Cooper, Colin C; Neal, David D; Visakorpi, Tapio T; Isaacs, William B WB; Bova, G Steven GS; Flanagan, Adrienne M AM; Futreal, P Andrew PA; Lynch, Andy G AG; Chinnery, Patrick F PF; McDermott, Ultan U; Stratton, Michael R MR; Campbell, Peter J PJ

Publication Date: 2014-10-01

Variant appearance in text: 225: A406T

PubMed Link: 25271376

Variant Present in the following documents:

• elife02935s002.xlsx, sheet 1

View BVdb publication page

---

Mutated tumor alleles are expressed according to their DNA frequency.

Scientific Reports

Castle, John C JC; Loewer, Martin M; Boegel, Sebastian S; Tadmor, Arbel D AD; Boisguerin, Valesca V; de Graaf, Jos J; Paret, Claudia C; Diken, Mustafa M; Kreiter, Sebastian S; Türeci, Özlem Ö; Sahin, Ugur U

Publication Date: 2014-04-22

Variant appearance in text: 225: A406T

PubMed Link: 24752137

Variant Present in the following documents:

• srep04743-s1.xls, sheet 2

View BVdb publication page

---

NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis.

The Journal Of Investigative Dermatology

South, Andrew P AP; Purdie, Karin J KJ; Watt, Stephen A SA; Haldenby, Sam S; den Breems, Nicoline N; Dimon, Michelle M; Arron, Sarah T ST; Kluk, Michael J MJ; Aster, Jon C JC; McHugh, Angela A; Xue, Dylan J DJ; Dayal, Jasbani Hs JH; Robinson, Kim S KS; Rizvi, Sm Hasan SH; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM

Publication Date: 2014-10

Variant appearance in text: 225: A406T

PubMed Link: 24662767

Variant Present in the following documents:

• NIHMS57574-supplement-data_tables.xlsx, sheet 2

View BVdb publication page

---