Results 21 to 30 of about 86,998 (259)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Mafb and c-Maf Have Prenatal Compensatory and Postnatal Antagonistic Roles in Cortical Interneuron Fate and Function

Cell Reports, 2019
Summary: Mafb and c-Maf transcription factor (TF) expression is enriched in medial ganglionic eminence (MGE) lineages, beginning in late-secondary progenitors and continuing into mature parvalbumin (PV+) and somatostatin (SST+) interneurons. However, the
Emily Ling-Lin Pai, Daniel Vogt, Alexandra Clemente-Perez, Gabriel L. McKinsey, Frances S. Cho, Jia Sheng Hu, Matt Wimer, Anirban Paul, Siavash Fazel Darbandi, Ramon Pla, Tomasz J. Nowakowski, Lisa V. Goodrich, Jeanne T. Paz, John L.R. Rubenstein   +13 more
doaj   +1 more source

Improved structural uniformity and specific strength of commercially pure aluminum through variable temperature multi axial forging: Finite element analysis and experimental study

International Journal of Lightweight Materials and Manufacture, 2023
Multi axial forging (MAF) is a forging-based severe plastic deformation (SPD) technique which is prominently used to refine grain structure and improve the strength of the material. While the advantages of MAF lie in its simple tool design and ability to
S. Deb, M.B. Abhilash, R.J. Immanuel, S.K. Panigrahi   +3 more
doaj   +1 more source

Interleukin 10 (IL10) proximal promoter polymorphisms beyond clinical response in classical Hodgkin lymphoma: Exploring the basis for the genetic control of the tumor microenvironment

OncoImmunology, 2018
Interleukin-10 (IL10) is an immune regulatory cytokine. Single nucleotide polymorphisms (SNPs) in IL10 promoter have been associated with prognosis in adult classical Hodgkin lymphoma (cHL).
Gabriela Vera-Lozada, Carolina Minnicelli, Priscilla Segges, Gustavo Stefanoff, Flavia Kristcevic, Joaquin Ezpeleta, Elizabeth Tapia, Gerald Niedobitek, Mário Henrique M. Barros, Rocio Hassan   +9 more
doaj   +1 more source

Transcription factor c-Maf deletion improves streptozotocin-induced diabetic nephropathy by directly regulating Sglt2 and Glut2

JCI Insight, 2023
The transcription factor c-Maf has been widely studied and has been reported to play a critical role in embryonic kidney development; however, the postnatal functions of c-Maf in adult kidneys remain unknown as c-Maf–null C57BL/6J mice exhibit embryonic ...
Mitsunori Fujino, Naoki Morito, Takuto Hayashi, Masami Ojima, Shun Ishibashi, Akihiro Kuno, Seizo Koshiba, Kunihiro Yamagata, Satoru Takahashi   +8 more
doaj   +1 more source

Maf and Mafb control mouse pallial interneuron fate and maturation through neuropsychiatric disease gene regulation

eLife, 2020
​Maf (c-Maf) and Mafb transcription factors (TFs) have compensatory roles in repressing somatostatin (SST+) interneuron (IN) production in medial ganglionic eminence (MGE) secondary progenitors in mice.
Emily Ling-Lin Pai, Jin Chen, Siavash Fazel Darbandi, Frances S Cho, Jiapei Chen, Susan Lindtner, Julia S Chu, Jeanne T Paz, Daniel Vogt, Mercedes F Paredes, John LR Rubenstein   +10 more
doaj   +1 more source

Inhibition of the Otub1/c-Maf axis by the herbal acevaltrate induces myeloma cell apoptosis

Cell Communication and Signaling, 2021
Background The oncogenic transcript factor c-Maf is stabilized by the deubiquitinase Otub1 and promotes myeloma cell proliferation and confers to chemoresistance.
Tong Sun, Yujia Xu, Zhuan Xu, Biyin Cao, Zubin Zhang, Qi Wang, Yan Kong, Xinliang Mao   +7 more
doaj   +1 more source

The incidence and risk factors of meconium amniotic fluid in singleton pregnancies: an experience of a tertiary hospital in Iran

BMC Pregnancy and Childbirth, 2022
Background Several common maternal or neonatal risk factors have been linked to meconium amniotic fluid (MAF) development; however, the results are contradictory, depending on the study.
Mitra Shekari, Malihe Shirzadfard Jahromi, Amene Ranjbar, Vahid Mehrnoush, Fatemeh Darsareh, Nasibeh Roozbeh   +5 more
doaj   +1 more source

Ausbildungstyp oder Ausbildungsgang? Kritische Überlegungen zur Frage der "richtigen" Struktur der Ausbildung von Lehrerinnen und Lehrern

Beiträge zur Lehrerinnen- und Lehrerbildung, 1997
Auf der Folie der aktuellen Reformdiskussionen um die zukünftige Struktur der schweizerischen Lehrerinnen- und Lehrerbildung wird in diesem Beitrag kritisch nach dem Bezugspunkt dieser Diskussionen gefragt.
Martin Wild-Mäf
doaj   +1 more source

Tumor-suppressive role of the musculoaponeurotic fibrosarcoma gene in colorectal cancer

iScience, 2023
Summary: Somatic cell reprogramming using the microRNAs miR-200c, miR-302s, and miR-369s leads to increased expression of cyclin-dependent kinase inhibitors in human colorectal cancer (CRC) cells and suppressed tumor growth. Here, we investigated whether
Hiroaki Itakura, Tsuyoshi Hata, Daisuke Okuzaki, Koki Takeda, Kenji Iso, Yamin Qian, Yoshihiro Morimoto, Tomohiro Adachi, Haruka Hirose, Yuhki Yokoyama, Takayuki Ogino, Norikatsu Miyoshi, Hidekazu Takahashi, Mamoru Uemura, Tsunekazu Mizushima, Takao Hinoi, Masaki Mori, Yuichiro Doki, Hidetoshi Eguchi, Hirofumi Yamamoto   +19 more
doaj   +1 more source