Results 221 to 230 of about 2,140,385 (376)

SV4GD: a comprehensive structural variation database specially for genetic diseases. [PDF]

Nucleic Acids Res
Shi L, Zhang S, Li Y, Li H, Wang X, Du M, Zhang M, Ke L, Zhang Y, Xu C, Tan S, Zhang Z, Zhang D, Wang J, Qi C, Liu X, Wang X, Qian K, Cheng L, Zhang X.   +19 more
europepmc   +1 more source

Expanding what we know about rare genetic diseases. [PDF]

Eur J Hum Genet, 2023
McNeill A.
europepmc   +1 more source

Transcriptome‐wide analysis of circRNA and RBP profiles and their molecular relevance for GBM

Molecular Oncology, EarlyView.
CircRNAs are differentially expressed in glioblastoma primary tumors and might serve as therapeutic targets and diagnostic markers. The investigation of circRNA and RNA‐binding proteins (RBPs) interactions shows that distinct RBPs play a role in circRNA biogenesis and function.
Julia Latowska‐Łysiak, Żaneta Zarębska, Marcin P. Sajek, Adriana Grabowska, Alessia Buratin, Paweł Głodowicz, Julia O. Misiorek, Konrad Kuczyński, Stefania Bortoluzzi, Marek Żywicki, Jan G. Kosiński, Agnieszka Rybak‐Wolf, Rafał Piestrzeniewicz, Anna M. Barciszewska, Katarzyna Rolle   +14 more
wiley   +1 more source

The genetic basis of ophthalmological disease [PDF]

, 1980
Roy D. Schmickel
openalex   +1 more source

Profile of DHX37 gene defects in human genetic diseases: 46,XY disorders of sex development. [PDF]

Front Endocrinol (Lausanne)
Peng H, Peng W, Chen J, Hu K, Zhang Y, Ma Y, Jiang H.   +6 more
europepmc   +1 more source

Premature aging in genetic diseases: what conclusions can be drawn for physiological aging. [PDF]

Front Aging, 2023
Milosic F, Hengstschläger M, Osmanagic-Myers S.   +2 more
europepmc   +1 more source

Targeting the MDM2‐MDM4 interaction interface reveals an otherwise therapeutically active wild‐type p53 in colorectal cancer

Molecular Oncology, EarlyView.
This study investigates an alternative approach to reactivating the oncosuppressor p53 in cancer. A short peptide targeting the association of the two p53 inhibitors, MDM2 and MDM4, induces an otherwise therapeutically active p53 with unique features that promote cell death and potentially reduce toxicity towards proliferating nontumor cells.
Sonia Valentini, Giada Mele, Marika Attili, Maria Rita Assenza, Fulvio Saccoccia, Francesca Sardina, Cinzia Rinaldo, Roberto Massari, Nicola Tirelli, Alfredo Pontecorvi, Fabiola Moretti   +10 more
wiley   +1 more source

Civil Commitment in Mental Health: A Review of the Lanterman-Petris-Short Act [PDF]

, 1984
Assembly Select Committee on Mental Health, Senate Subcommittee on Mental Health, Developmental Disabilities and Genetic Diseases   +1 more
core   +1 more source

Selected Monogenic Genetic Diseases in Holstein Cattle-A Review. [PDF]

Genes (Basel)
Gozdek M, Mucha S, Prostek A, Sadkowski T.   +3 more
europepmc   +1 more source

Thermal proteome profiling and proteome analysis using high‐definition mass spectrometry demonstrate modulation of cholesterol biosynthesis by next‐generation galeterone analog VNPP433‐3β in castration‐resistant prostate cancer

Molecular Oncology, EarlyView.
Elevated level of cholesterol is positively correlated to prostate cancer development and disease severity. Cholesterol‐lowering drugs, such as statins, are demonstrated to inhibit prostate cancer. VNPP433‐3β interrupts multiple signaling and metabolic pathways, including cholesterol biosynthesis, AR‐mediated transcription of several oncogenes, mRNA 5′
Retheesh S. Thankan, Elizabeth Thomas, Mehari M. Weldemariam, Puranik Purushottamachar, Weiliang Huang, Maureen A. Kane, Yuji Zhang, Nicholas Ambulos, Bi‐Dar Wang, David Weber, Vincent C. O. Njar   +10 more
wiley   +1 more source