BDNF c.31_32inv ;(p.S11E)

Variant ID: 11-27680080-GA-TC

NM_001709.4(BDNF):c.31_32inv;(p.S11E)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


A chromosome-level reference genome and pangenome for barn swallow population genomics.

Cell Reports
Secomandi, Simona S; Gallo, Guido R GR; Sozzoni, Marcella M; Iannucci, Alessio A; Galati, Elena E; Abueg, Linelle L; Balacco, Jennifer J; Caprioli, Manuela M; Chow, William W; Ciofi, Claudio C; Collins, Joanna J; Fedrigo, Olivier O; Ferretti, Luca L; Fungtammasan, Arkarachai A; Haase, Bettina B; Howe, Kerstin K; Kwak, Woori W; Lombardo, Gianluca G; Masterson, Patrick P; Messina, Graziella G; Møller, Anders P AP; Mountcastle, Jacquelyn J; Mousseau, Timothy A TA; Ferrer Obiol, Joan J; Olivieri, Anna A; Rhie, Arang A; Rubolini, Diego D; Saclier, Marielle M; Stanyon, Roscoe R; Stucki, David D; Thibaud-Nissen, Françoise F; Torrance, James J; Torroni, Antonio A; Weber, Kristina K; Ambrosini, Roberto R; Bonisoli-Alquati, Andrea A; Jarvis, Erich D ED; Gianfranceschi, Luca L; Formenti, Giulio G
Publication Date: 2023-01-18

Variant appearance in text: BDNF: S11E
PubMed Link: 36662619
Variant Present in the following documents:
  • nihms-1872740.pdf
View BVdb publication page



Muscular Swedish mutant APP-to-Brain axis in the development of Alzheimer's disease.

Cell Death & Disease
Pan, Jin-Xiu JX; Lee, Daehoon D; Sun, Dong D; Zhao, Kai K; Xiong, Lei L; Guo, Hao-Han HH; Ren, Xiao X; Chen, Peng P; Lopez de Boer, Raquel R; Lu, Yuyi Y; Lin, Helena H; Mei, Lin L; Xiong, Wen-Cheng WC
Publication Date: 2022-11-10

Variant appearance in text: BDNF: S11E
PubMed Link: 36357367
Variant Present in the following documents:
  • 41419_2022_Article_5378.pdf
View BVdb publication page



Neuron type-specific increase in lamin B1 contributes to nuclear dysfunction in Huntington's disease.

Embo Molecular Medicine
Alcalá-Vida, Rafael R; Garcia-Forn, Marta M; Castany-Pladevall, Carla C; Creus-Muncunill, Jordi J; Ito, Yoko Y; Blanco, Enrique E; Golbano, Arantxa A; Crespí-Vázquez, Kilian K; Parry, Aled A; Slater, Guy G; Samarajiwa, Shamith S; Peiró, Sandra S; Di Croce, Luciano L; Narita, Masashi M; Pérez-Navarro, Esther E
Publication Date: 2021-02-05

Variant appearance in text: BDNF: S11E
PubMed Link: 33369245
Variant Present in the following documents:
  • Main text
  • EMMM-13-e12105.pdf
View BVdb publication page



Ribosome-associated vesicles: A dynamic subcompartment of the endoplasmic reticulum in secretory cells.

Science Advances
Carter, Stephen D SD; Hampton, Cheri M CM; Langlois, Robert R; Melero, Roberto R; Farino, Zachary J ZJ; Calderon, Michael J MJ; Li, Wen W; Wallace, Callen T CT; Tran, Ngoc Han NH; Grassucci, Robert A RA; Siegmund, Stephanie E SE; Pemberton, Joshua J; Morgenstern, Travis J TJ; Eisenman, Leanna L; Aguilar, Jenny I JI; Greenberg, Nili L NL; Levy, Elana S ES; Yi, Edward E; Mitchell, William G WG; Rice, William J WJ; Wigge, Christoph C; Pilli, Jyotsna J; George, Emily W EW; Aslanoglou, Despoina D; Courel, Maïté M; Freyberg, Robin J RJ; Javitch, Jonathan A JA; Wills, Zachary P ZP; Area-Gomez, Estela E; Shiva, Sruti S; Bartolini, Francesca F; Volchuk, Allen A; Murray, Sandra A SA; Aridor, Meir M; Fish, Kenneth N KN; Walter, Peter P; Balla, Tamas T; Fass, Deborah D; Wolf, Sharon G SG; Watkins, Simon C SC; Carazo, José María JM; Jensen, Grant J GJ; Frank, Joachim J; Freyberg, Zachary Z
Publication Date: 2020-04

Variant appearance in text: BDNF: S11E
PubMed Link: 32270040
Variant Present in the following documents:
  • aay9572.pdf
View BVdb publication page



Discovery, Radiolabeling, and Evaluation of Subtype-Selective Inhibitors for Positron Emission Tomography Imaging of Brain Phosphodiesterase-4D.

Acs Chemical Neuroscience
Wakabayashi, Yuichi Y; Telu, Sanjay S; Dick, Rachel M RM; Fujita, Masahiro M; Ooms, Maarten M; Morse, Cheryl L CL; Liow, Jeih-San JS; Hong, Jinsoo S JS; Gladding, Robert L RL; Manly, Lester S LS; Zoghbi, Sami S SS; Mo, Xuesheng X; D'Amato, Emily C EC; Sindac, Janice A JA; Nugent, Richard A RA; Marron, Brian E BE; Gurney, Mark E ME; Innis, Robert B RB; Pike, Victor W VW
Publication Date: 2020-05-06

Variant appearance in text: BDNF: S11E
PubMed Link: 32212718
Variant Present in the following documents:
  • Main text
View BVdb publication page



Activity-dependent bulk endocytosis proteome reveals a key presynaptic role for the monomeric GTPase Rab11.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Kokotos, A C AC; Peltier, J J; Davenport, E C EC; Trost, M M; Cousin, M A MA
Publication Date: 2018-10-23

Variant appearance in text: BDNF: S11E
PubMed Link: 30301801
Variant Present in the following documents:
  • pnas.201809189.pdf
View BVdb publication page



Astrocyte glypicans 4 and 6 promote formation of excitatory synapses via GluA1 AMPA receptors.

Nature
Allen, Nicola J NJ; Bennett, Mariko L ML; Foo, Lynette C LC; Wang, Gordon X GX; Chakraborty, Chandrani C; Smith, Stephen J SJ; Barres, Ben A BA
Publication Date: 2012-05-27

Variant appearance in text: BDNF: S11E
PubMed Link: 22722203
Variant Present in the following documents:
  • nihms364575.pdf
View BVdb publication page