Results 111 to 120 of about 52,839 (293)

DDX21 Enhances Radiosensitivity in Head and Neck Squamous Cell Carcinoma by Suppressing MK2‐Mediated DNA Damage Response

Advanced Science, EarlyView.
DDX21 suppresses MK2 activation by directly inhibiting Thr334 phosphorylation in a p38‐independent manner, thereby impairing DNA damage response. Clinically, patients with well‐differentiated tumors exhibiting high DDX21 expression are more likely to benefit from adjuvant radiotherapy, whereas those with low DDX21 levels are predisposed to ...
Tianru Yang, Ting Shen, Yanfang Qiu, Wei Zhang, Ziran Zheng, Jiayi Sun, Yuedi Yao, Mianfeng Yao, Jiang Li   +8 more
wiley   +1 more source

Severe infantile hypotonia with ethylmalonic aciduria: Case report

, 2008
An 8-month-old girl was admitted to an outpatient clinic with significant hypotonia and weakness. Organic acid analysis in urine revealed a significant increase in ethylmalonic acid.
Yilgor E., Ezgu F. S., Biberoglu G., Okuyaz C., Tiranti V., Zeviani M.   +5 more
core   +2 more sources

Joubert Syndrome: A Rare Case Highlighting the Significance of the Molar Tooth Sign [PDF]

Journal of Clinical and Diagnostic Research
Joubert Syndrome (JS) is a rare autosomal recessive neurodevelopmental disorder characterised by malformation of the cerebellar vermis and brainstem, leading to a wide spectrum of neurological manifestations.
Prerna Jain, Rajesh Kumar Rathore, Parth Nikhil Doshi   +2 more
doaj   +1 more source

Nuclear IDH3A Drives Transcriptional Programs in Melanoma via the YBX1–JUN/FOS Axis

Advanced Science, EarlyView.
Genomic amplification drives aberrant nuclear localization of IDH3A in melanoma. Independent of its canonical metabolic activity, nuclear IDH3A cooperates with YBX1 to activate the c‐JUN/c‐FOS transcriptional program, while NONO facilitates its nuclear localization.
Juan Ran, Yanchun Fang, Shengming Ruan, Juling Wang, Songbai Liu, Yuan Mao, Dongsheng Hou, Yanping Wang, Zi Ye, Qiong Li, Daoxiang Zhang   +10 more
wiley   +1 more source

Asymmetric Structure‐Driven Functional Synergy: A Multistimuli‐Activated Janus Nanomotor for Self‐Amplifying NO Cascade Therapy

Advanced Science, EarlyView.
The Janus nanomotors leverage an “asymmetric structure‐driven functional synergy” strategy to orchestrate spatiotemporally coordinated catalytic functions, in situ self‐amplifying NO generation, and deep tumor penetration, thereby enabling controllable, sustained, and uniform NO generation within the tumor microenvironment.
Chengcheng Li, Yu Zhang, Yu Chen, Lingyun He, Xian Shen, Weijian Sun, Hongbo Zhang   +6 more
wiley   +1 more source

Variants in DOCK3 cause developmental delay and hypotonia

, 2019
The DOCK3 gene encodes the Dedicator of cytokinesis 3 (DOCK3) protein, which belongs to the family of guanine nucleotide exchange factors and is expressed almost exclusively in the brain and spinal cord.
Babovic-Vuksanovic, D, Aarts-Tesselaar, Coranne D., Kempainen, JL, Ferrer, Alejandro, Harada, Takayuki, Shinawi, M, Schnur, RE, Aarts-Tesselaar, CD, Klee, EW, Zimmerman, MT, Schnur, Rhonda E., Cousin, Margot A., Wiltrout, K, Wiltrout, Kimberly, Namekata, Kazuhiko, Babovic-Vuksanovic, Dusica, van de Laar, Ingrid, Cousin, MA, Ferrer, A, Namekata, K, Klee, Eric W., Andrews, Marisa, Shinawi, Marwan, De Graaf - van de Laar, Ingrid, Harada, T, Zimmerman, Michael T., van Slegtenhorst, Marjon, Andrews, M, Kempainen, Jennifer L., van Slegtenhorst, Marjon A.   +29 more
core   +1 more source

H4K12 Lactylation Regulates NDUFS7 to Drive Microglia Reverse Electron Transport in Spinal Cord Injury

Advanced Science, EarlyView.
Lactate accumulation after SCI promotes H4K12la lactylation, which upregulates NDUFS7, triggering mitochondrial RET and ROS, enforcing pro‐inflammatory microglial polarization. MM@mPTC, a biomimetic nanotherapeutic, degrades LDHA in activated microglia, reducing H4K12la lactylation and blocking RET, thus curbing ROS, fostering a reparative phenotype ...
Chenglong Hong, Zhichen Jiang, Zhouwei Wu, Chenyu Wu, Jiang Liu, Kaijie Guo, Yihui Liang, Shaobo Xu, Yuchen Jin, Yong Xiao, Lei Guo, Hui Xu, Sunren Sheng, Chenggui Wang   +13 more
wiley   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source