Results 1 to 10 of about 101,256 (153)

15q11.2 BP1-BP2 microdeletion presenting as progressive spastic paraplegia and brain images of small vessel disease [PDF]

open access: yesNeurosciences (Riyadh), 2022
15q11.2 BP1-BP2 microdeletion is related to clinical abnormalities including general developmental delay, speech and neuropsychiatric disorders, which is known as Angelman syndrome.
Sha Q, Xia Y, Shen X, Du A.
europepmc   +2 more sources

4E-BP1 counteracts human mesenchymal stem cell senescence via maintaining mitochondrial homeostasis

open access: yesProtein & Cell, 2022
Although the mTOR-4E-BP1 signaling pathway is implicated in aging and aging-related disorders, the role of 4E-BP1 in regulating human stem cell homeostasis remains largely unknown.
Yifang He   +12 more
semanticscholar   +1 more source

The expression and significance of p4E‐BP1/4E‐BP1 in prostate cancer

open access: yesJournal of clinical laboratory analysis (Print), 2022
Although the phosphorylation of 4E‐BP1 that has been detected in high‐grade prostate cancer has been reported in previous studies, overexpression of p4E‐BP1 and 4EBP1 and their clinical significance in prostate cancer still remain unknown.
Kai-Yun Wang, Ke-jie Wang, Qi Ma
semanticscholar   +1 more source

Fusarium BP1 is a reader of H3K27 methylation

open access: yesNucleic Acids Research, 2021
Histone H3 lysine 27 methylation catalyzed by polycomb repressive complex 2 (PRC2) is conserved from fungi to humans and represses gene transcription. However, the mechanism for recognition of methylated H3K27 remains unclear, especially in fungi.
G. Tang   +13 more
semanticscholar   +1 more source

Genomic, Clinical, and Behavioral Characterization of 15q11.2 BP1-BP2 Deletion (Burnside-Butler) Syndrome in Five Families

open access: yesInternational Journal of Molecular Sciences, 2021
The 15q11.2 BP1-BP2 deletion (Burnside-Butler) syndrome is emerging as the most common cytogenetic finding in patients with neurodevelopmental or autism spectrum disorders (ASD) presenting for microarray genetic testing.
Isaac Baldwin   +6 more
semanticscholar   +1 more source

BAP1 promotes viability and migration of ECA109 cells through KLF5/CyclinD1/FGF‐BP1

open access: yesFEBS Open Bio, 2021
More than 40 000 patients worldwide die from esophageal cancer annually. The 5‐year survival rate of patients is only ~ 15–20%, and thus, there is an ongoing need to improve diagnosis and treatment of esophageal cancer.
Fengyun Wang   +3 more
semanticscholar   +1 more source

Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition.

open access: yesJAMA psychiatry, 2020
Importance Recurrent microdeletions and duplications in the genomic region 15q11.2 between breakpoints 1 (BP1) and 2 (BP2) are associated with neurodevelopmental disorders.
D. van der Meer   +131 more
semanticscholar   +1 more source

Rutinitas Adat Orang Buton: Membangun Peradaban dan Karakter yang Sejahtera dan Berkeadilan Sosial di Tengah Arus Globalisasi

open access: yesAl-Izzah, 2014
Masyarakat Buton pada umumnya mengenal salah satu falsafah hidup, yaitu belajar hidup sepanjang masa. Meskipun, dalam implementasi hariannya jumlah penduduk dengan tingkat pendidikan tinggi formal masih termasuk rendah dibandingkan dengan daerah-daerah ...
Burhan & Imelda Burhan & Imelda
doaj   +1 more source

Takyif Fiqhi on the Permissibility of Ijarah Mawsufah fi al-Dhimmah: A Critical Analysis [PDF]

open access: yesInternational Journal of Islamic Thought, 2020
Ijarah mawsufah fi al-dhimmah (hereinafter referred to as IMAD), also known as forward ijarah¸ is an Islamic financial product that involves the sale of an identified asset currently being produced or constructed for a future delivery such as a ...
ABU UMAR FARUQ AHMAD   +2 more
doaj   +1 more source

The 15q11.2 BP1-BP2 Microdeletion (Burnside–Butler) Syndrome: In Silico Analyses of the Four Coding Genes Reveal Functional Associations with Neurodevelopmental Disorders

open access: yesInternational Journal of Molecular Sciences, 2020
The 15q11.2 BP1-BP2 microdeletion (Burnside–Butler) syndrome is emerging as the most frequent pathogenic copy number variation (CNV) in humans associated with neurodevelopmental disorders with changes in brain morphology, behavior, and cognition. In this
Syed K. Rafi, M. Butler
semanticscholar   +1 more source

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