Results 121 to 130 of about 1,715 (142)

Genetic alterations are related to clinicopathological features and risk of recurrence/metastasis of hepatocellular carcinoma. [PDF]

Eur J Cancer Prev
Meng L, Jiang Z, Shen G, Lin S, Gao F, Guo X, Lv B, Hu S, Ni Z, Chen S, Ji Y.   +10 more
europepmc   +1 more source

Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR. [PDF]

Eur J Hum Genet
Farooq M, Bruun GH, Sarusie MVK, Kessel L, Akhtar H, Abdullah U, Ali Z, Shah SA, Ali N, Anjum I, Doktor TK, Andresen BS, Baig SM, Larsen LA, Grønskov K.   +14 more
europepmc   +1 more source

High temporal-resolution transcriptome landscape reveals the biological process and regulatory genes of melanin deposition in breast muscle of Silkie chickens during embryonic development. [PDF]

BMC Genomics
Yang X, Ma B, Zhao Q, Jia Y, Meng Q, Qin Y, Tang C, Zhang J.   +7 more
europepmc   +1 more source

Management of Known Cushing's Disease in a Nonsurgical Candidate Secondary to a History of Hemorrhagic Stroke Case Report. [PDF]

Case Rep Endocrinol
Distler K, Cardona JR, Martinez S.
europepmc   +1 more source

Apparently X-linked Foveal Hypoplasia of Two Brothers: A Report of a Rare Case. [PDF]

Cureus
Alarfaj G, Alhashim H, Alotaibi HM, Almubarak M, Alhamad J.   +4 more
europepmc   +1 more source

CRISPR and Beyond: Genome-Editing Strategies in Retinal Stem Cell Research. [PDF]

Cells
Woronkowicz M, Thomas MN, Saram SJ, Carr AF, Alonso-Carriazo Fernandez A, Butt Z, Skopiński P, Ramsden CM.   +7 more
europepmc   +1 more source

Clinical and Molecular Characteristics of Foveal Sparing Phenotype in Chinese Patients With Inherited Retinal Diseases. [PDF]

Transl Vis Sci Technol
Wang Z, Li T, Chen J, Sun Y, Jia H, Sun J, Sun X.   +6 more
europepmc   +1 more source

GPR143 controls ESCRT-dependent exosome biogenesis and promotes cancer metastasis [PDF]

Developmental Cell, 2023
Exosomes transport a variety of macromolecules and modulate intercellular communication in physiology and disease. However, the regulation mechanisms that determine exosome contents during exosome biogenesis remain poorly understood.
Young Chan Chae, A Reum Je, Jeong Kon Seo   +2 more
exaly   +2 more sources

Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides [PDF]

Human Mutation, 2006
An intronic point mutation was identified in the ocular albinism type 1 (OA1) gene (HUGO symbol, GPR143) in a family with the X-linked form of ocular albinism. Interestingly, the mutation creates a new acceptor splice site in intron 7 of the OA1 gene. In
Alberto Auricchio, Michele De Luca, Enrico Maria Surace   +2 more
exaly   +2 more sources

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L-DOPA-Induced Neurogenesis in the Hippocampus Is Mediated Through GPR143, a Distinct Mechanism of Dopamine

Stem Cells, 2022
Masahiko Watababe, Masahiko Watanabe, Yoshio Goshima   +2 more
exaly