Results 221 to 230 of about 984,623 (303)

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Madelung Disease Associated With Bilateral Avascular Necrosis of the Femoral Head: A Case Report of a Rare Disorder. [PDF]

Cureus
Metke AK, Kagne S, Chandy DD.
europepmc   +1 more source

Identification of senescence‐related genes in Parkinson's disease reveals candidate therapeutic targets and pathological processes

Animal Models and Experimental Medicine, EarlyView.
At the genomic level, a large number of differentially expressed genes (DEGs) and aging‐related DEGs have been screened. Ten hub genes, such as IFNγ and IRF7, have been identified and shown potential value in the diagnosis of PD, holding promise as novel biomarkers to facilitate early and precise diagnosis.
Haojie Wu, Tingting Liu, Xiangshu Cheng, Jianshe Wei   +3 more
wiley   +1 more source

Differential Water Networks Guide Selectivity Optimization of a Cell Active BPTF Inhibitor in Neuroblastoma

Angewandte Chemie, EarlyView.
BZ2 is a second‐generation Bromodomain PHD finger Transcription Factor (BPTF) inhibitor with improved selectivity over Class I and Class IV BRD off‐targets identified in our previously reported inhibitor, BZ1. Structural analyses reveal that water network engagement is key to this selectivity.
Kesavan Babu, Chun‐Ju Tsou, Sourav Das, Liying Fan, Anasuya Pal, Molly Sneddon, Timothy R. Stachowski, Priyanka Samanta, Stanley Nithianantham, Caroline Buchholz, Shi Zhang, Xiang Fu, Rahul S. Kathayat, Wenwei Lin, Yongtao Li, Lei Yang, Taosheng Chen, Marcus Fischer, Anang A. Shelat, William C. K. Pomerantz   +19 more
wiley   +2 more sources

A Case of Pityriasis Lichenoides Chronica Successfully Treated With Upadacitinib. [PDF]

Case Rep Dermatol Med
Noble OR, Cohen DJ, Cooper L.
europepmc   +1 more source

The diagnostic value of the circadian rhythm gene KLF10 in anxiety‐depressive disorders and its neuroimmune regulatory mechanisms

Animal Models and Experimental Medicine, EarlyView.
This graphical abstract illustrates the protective role and molecular mechanism of the circadian rhythm‐related gene KLF10, identified as a diagnostic biomarker and therapeutic target in anxiety‐depressive disorder. Model establishment and phenotypes: An anxiety‐depression model was successfully established by chronic restraint stress combined with ...
Anlan Liu, Weifeng Guo, Jianxiang Li, Tiange Zhang, Dan Xu   +4 more
wiley   +1 more source

Self‐Assembled Pt(II) Complexes Boost Up Stem Cell Proliferation and Accelerate Metamorphosis in Living Organisms

Angewandte Chemie, EarlyView.
Pt1, an organometallic platinum‐based complex, act as a modulator of redox homeostasis in cnidarians, regulating cellular functions and life‐cycle dynamics. In Nematostella vectensis, it mitigates oxidative stress, strengthens detox systems and accelerates development.
Giuseppina Tommasini, Tania Pecoraro, Anna Lewinska, Maciej Wnuk, Olga Kolodziej, Daniela Intartaglia, Simona Morgera, Alessandro Aliprandi, Giulia Veronesi, Giorgio Facchetti, Isabella Rimoldi, Angela Tino, Claudia Tortiglione, Luisa De Cola   +13 more
wiley   +2 more sources

Clinicopathological Characteristics and Outcomes of Genitourinary Rhabdomyosarcoma in Two Girls. [PDF]

Clin Case Rep
Evele G, Kouya F, Ngock G, Bardin R.
europepmc   +1 more source

Animal stroke models and outcome evaluation: A review

Animal Models and Experimental Medicine, EarlyView.
Rodents are the preeminent stroke model species. Large animal models exist too, but are poorly standardized. Ischemic and hemorrhagic experimental models are available, with the intraluminal filament model being predominant. Outcomes are evaluated via quantifying subjects' sensorimotor impairment, cognitive memory faculties, degree of cellular ...
Solsa Cariba, Helen M. Atkinson, Anthony K. C. Chan   +2 more
wiley   +1 more source

Prime editing-mediated microhomology enables efficient replacement of large DNA. [PDF]

Nucleic Acids Res
Xie Y, Li P, He Z, Huang H, Wu D, Ma Z, Feng S, Ran J, Hou K, Gao F, Du X, Capecchi MR, Wu S.   +12 more
europepmc   +1 more source