Results 201 to 210 of about 7,162,706 (382)

Wild-type C-Raf gene dosage and dimerization drive prostate cancer metastasis. [PDF]

iScience, 2023
Ta L, Tsai BL, Deng W, Sha J, Varuzhanyan G, Tran W, Wohlschlegel JA, Carr-Ascher JR, Witte ON.   +8 more
europepmc   +1 more source

Erratum: PAX6 gene dosage effect in a family with congential cataracts, aniridia, anophthalmia and central nervous system defects [PDF]

, 1994

openalex   +1 more source

Mapping 22q11.2 Gene Dosage Effects on Brain Morphometry

Journal of Neuroscience, 2016
A. Lin, C. Ching, A. Vajdi, Daqiang Sun, R. Jonas, M. Jalbrzikowski, Leila Kushan-Wells, Laura Pacheco Hansen, Emma Krikorian, B. Gutman, Deepika Dokoru, G. Helleman, P. Thompson, C. Bearden   +13 more
semanticscholar   +1 more source

Liver‐specific lncRNAs associated with liver cancers

FEBS Open Bio, EarlyView.
Long non‐coding RNAs (lncRNAs) are regulatory molecules with various functions. They are more tissue‐specific than proteins and can be used as potential biomarkers, particularly in cancer diagnostics and prognosis. In this review, we have systematically compiled all lncRNAs with exclusive expression in the human liver, verified their liver specificity ...
Olga Y. Burenina, Roman K. Makarchenko, Maria P. Rubtsova, Olga A. Dontsova   +3 more
wiley   +1 more source

Gene dosage architecture across complex traits

Long AbstractCopy number variants (CNVs) have large effects on complex traits, but they are rare and remain challenging to study. As a result, our understanding of biological functions linking gene dosage to complex traits remains limited, and whether these functions sensitive to gene dosage are similar to those underlying the effects of rare single ...
Kazem, Sayeh, Kumar, Kuldeep, Jean-Louis, Martineau, Huguet, Guillaume, Renne, Thomas, Saci, Zohra, Engchuan, Worrawat, Shanta, Omar, Thiruvahindrapuram, Bhooma, MacDonald, Jeffrey R., Greenwood, Celia M. T., Scherer, Stephen W., Almasy, Laura, Sebat, Jonathan, Glahn, David C, Dumas, Guillaume, Jacquemont, Sébastien   +16 more
openaire   +2 more sources

Determination of gene dosage at the PMP22 and androgen receptor loci by quantitative PCR [PDF]

, 1998
Renee A Poropat, Garth A. Nicholson
openalex   +1 more source

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee, Olivia Kim‐Mcmanus, Jennifer H. Yang, Richard Haas, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Yuji Nakamura, Mohamed S. Abdel‐Hamind, Darius Ebrahimi‐Fakhari, Julian E. Alecu, Nicola Brunetti‐Pierri, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Stephanie Gross, Yasemin Alanay, Paria Najarzadeh Totbati, Manya Yadavilli, Liana Friedman, Naomi Meave Ojeda, Joseph G. Gleeson   +19 more
wiley   +1 more source

TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies. [PDF]

J Allergy Clin Immunol, 2023
Boast B, Goel S, González-Granado LI, Niemela J, Stoddard J, Edwards ESJ, Seneviratne S, Spensberger D, Quesada-Espinosa JF, Allende LM, McDonnell J, Haseley A, Lesmana H, Walkiewicz MA, Muhammad E, Bosco JJ, Fleisher TA, Cohen S, Holland SM, van Zelm MC, Enders A, Kuehn HS, Rosenzweig SD.   +22 more
europepmc   +1 more source

An Analysis for IDH‐Mutant Grade 4 Astrocytoma Based on WHO CNS 5: Implication of Clinical Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Purpose There is ongoing debate regarding the therapeutic approach and prognosis for IDH‐mutant grade 4 astrocytoma, a newly defined subtype of diffuse glioma in the 2021 WHO classification system for central nervous system tumors (WHO CNS 5). The aim of this study was to explore the clinical outcome and prognosticators for newly diagnosed IDH‐
Xianxin Qiu, Liping Liang, Lingchao Chen, Pengjie Hong, Wanzun Lin, Jiabing Liu, Zhirui Zhou, Wenjia Zhu, Tianqi Wu, Mingyuan Pan, Yihua Zhong, Jing Gao, Zhiyong Qin, Yang Wang   +13 more
wiley   +1 more source

No Transcriptional Compensation for Extreme Gene Dosage Imbalance in Fragmented Bacterial Endosymbionts of Cicadas. [PDF]

Genome Biol Evol, 2023
Spencer N, Łukasik P, Meyer M, Veloso C, McCutcheon JP.   +4 more
europepmc   +1 more source