Results 81 to 90 of about 751 (109)

A Dosage-Dependent Dominant-Negative Mechanism of SLC45A2(W74R) in Autosomal Dominant Oculocutaneous Albinism Revealed by Zebrafish Modeling. [PDF]

Transl Vis Sci Technol
Surl D, Choi TI, Park JW, Don DW, Kim TY, Thomas MG, Park JS, Wei X, Bae YK, Han J, Kim CH.   +10 more
europepmc   +1 more source

CRISPR/Cas9 loss-of-function screen in a neuronal model of AP-4 deficiency identifies ATG9A trafficking modulators. [PDF]

JCI Insight
Ziegler M, Günter C, Alecu JE, Xue X, Kim HM, Saffari A, Davies AK, Sahin M, Ebrahimi-Fakhari D.   +8 more
europepmc   +1 more source

Evolutionarily conserved enhancer-associated features within the <i>MYEOV</i> locus suggest a regulatory role for this non-coding DNA region in cancer. [PDF]

Front Cell Dev Biol
Davidson BSA, Arcila-Galvis JE, Trevisan-Herraz M, Mikulasova A, Brackley CA, Russell LJ, Rico D.   +6 more
europepmc   +1 more source

Lysosomal-Mitochondrial Interaction Promotes Tumor Growth in Squamous Cell Carcinoma of the Head and Neck. [PDF]

Mol Cancer Res
Gopalkrishnan A, Wang N, Cruz-Rangel S, Yassin-Kassab A, Shiva S, Kurukulasuriya C, Monga SP, DeBerardinis RJ, Skinner HD, Kiselyov K, Duvvuri U.   +10 more
europepmc   +1 more source

Lysosomal channel TPC2 modulates microglia-endothelial signaling in choroidal angiogenesis. [PDF]

Angiogenesis
Lu Y, Reschigna A, Kynast F, Yang Z, Gerhardt M, Kielkowski P, Priglinger S, Biel M, Michalakis S.   +8 more
europepmc   +1 more source

Two unrelated distal genes activated by a shared enhancer benefit from localizing inside the same small topological domain. [PDF]

Genes Dev
Huang Y, Verstegen MJAM, Tjalsma SJD, Krijger PHL, Gupta K, Park M, Boettiger A, de Laat W.   +7 more
europepmc   +1 more source

Pseudorabies virus inhibits progesterone-induced inactivation of TRPML1 to facilitate viral entry. [PDF]

PLoS Pathog
Su BQ, Yang GY, Wang J, Ming SL, Chu BB.
europepmc   +1 more source

Oncogene amplification of CCND1 via extrachromosomal DNA impacts overall survival in head and neck squamous cell carcinoma. [PDF]

Discov Oncol
Tsou P, Wu CJ.
europepmc   +1 more source

ELF1 serves as a potential biomarker for the disease activity and renal involvement in systemic lupus erythematosus. [PDF]

Sci Rep
Zhang Y, Cai M, Huang X, Zhang L, Wen L, Zhu Z, Gao J, Sheng Y.   +7 more
europepmc   +1 more source

A novel Bi-Allelic pathogenic MCOLN1 variant underlying mucolipidosis type IV in an Iranian family: clinical, genetic, and molecular dynamics-based structural analysis. [PDF]

BMC Med Genomics
Mohsenipour M, Nejati P, Khosravi T, Alimoradi E, Salehi M, Oladnabi M, Alibakhshi R.   +6 more
europepmc   +1 more source