PMCH c.37_38delinsGC ;(p.L13A)

Variant ID: 12-102591511-AG-GC

NM_002674.2(PMCH):c.37_38delinsGC;(p.L13A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Fine particulate matter (PM2.5) inhibits ciliogenesis by increasing SPRR3 expression via c-Jun activation in RPE cells and skin keratinocytes.

Scientific Reports
Bae, Ji-Eun JE; Choi, Hyunjung H; Shin, Dong Woon DW; Na, Hye-Won HW; Park, Na Yeon NY; Kim, Joon Bum JB; Jo, Doo Sin DS; Cho, Min Ji MJ; Lyu, Jung Ho JH; Chang, Jeong Ho JH; Lee, Eunjoo H EH; Lee, Tae Ryong TR; Kim, Hyoung-June HJ; Cho, Dong-Hyung DH
Publication Date: 2019-03-08

Variant appearance in text: MCH: L13A
PubMed Link: 30850686
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_40670.pdf
View BVdb publication page



Snord116 is critical in the regulation of food intake and body weight.

Scientific Reports
Qi, Yue Y; Purtell, Louise L; Fu, Melissa M; Lee, Nicola J NJ; Aepler, Julia J; Zhang, Lei L; Loh, Kim K; Enriquez, Ronaldo F RF; Baldock, Paul A PA; Zolotukhin, Sergei S; Campbell, Lesley V LV; Herzog, Herbert H
Publication Date: 2016-01-04

Variant appearance in text: MCH: L13A
PubMed Link: 26726071
Variant Present in the following documents:
  • srep18614.pdf
View BVdb publication page



In Vivo Molecular Responses of Fast and Slow Muscle Fibers to Lipopolysaccharide in a Teleost Fish, the Rainbow Trout (Oncorhynchus mykiss).

Biology
Magnoni, Leonardo J LJ; Roher, Nerea N; Crespo, Diego D; Krasnov, Aleksei A; Planas, Josep V JV
Publication Date: 2015-02-04

Variant appearance in text: MCH: L13a
PubMed Link: 25658438
Variant Present in the following documents:
  • biology-04-00067.pdf
View BVdb publication page



Testes and brain gene expression in precocious male and adult maturing Atlantic salmon (Salmo salar).

Bmc Genomics
Guiry, Aoife A; Flynn, Denis D; Hubert, Sophie S; O'Keeffe, Allan M AM; LeProvost, Olivier O; White, Samantha L SL; Forde, Patrick F PF; Davoren, Pamela P; Houeix, Benoit B; Smith, Terry J TJ; Cotter, Deirdre D; Wilkins, Noel P NP; Cairns, Michael T MT
Publication Date: 2010-03-30

Variant appearance in text: MCH: L13A
PubMed Link: 20350334
Variant Present in the following documents:
  • Main text
  • 1471-2164-11-211.pdf
View BVdb publication page