Results 51 to 60 of about 29,641 (255)

Fragile-X Syndrome

Pediatric Neurology Briefs, 1988
A characteristic epileptogenic EEG pattern is described in five of 12 male subjects with fragile-X syndrome evaluated at the Instituto Oasi, via C. Ruggero, Troina, Italy, and Clinica Neurologica, II Universita Roma and Bologna, Italy.
J Gordon Millichap
doaj   +1 more source

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

Effect of Induced Polyploidy on Morphology, Antioxidant Activity, and Dissolved Sugars in Allium cepa L.

Horticulturae
The role of onion as the second most-consumed and cultivated vegetable around the world and its renowned qualities that lead it to be called the “queen of the kitchen” have positioned it as a vital source of nutritional and economic contributions around ...
Mujahid Ado Abubakar, Novitskaya Elena Gennadievna, Son Oksana Mikhailovna, Kim Ekaterina Mikhailovna   +3 more
doaj   +1 more source

Pneumocystis carinii karyotypes [PDF]

Journal of Clinical Microbiology, 1990
Pulsed-field gel electrophoresis techniques were used to examine the chromosomes of Pneumocystis carinii isolated from laboratory rats and two human subjects. P. carinii organisms isolated from each of four rat colonies and from two patients each produced a distinct band pattern, but in all cases the bands ranged in size from 300 to 700 kilobase pairs.
S T, Hong, P E, Steele, M T, Cushion, P D, Walzer, S L, Stringer, J R, Stringer   +5 more
openaire   +2 more sources

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Inhibition of IGFBP4 in Granulosa Cells Improves Reproductive Performance and Maintains Fertility With Age via YAP Signaling

Advanced Science, EarlyView.
IGFBP4 is upregulated in granulosa cells of aged ovaries across monkeys, mice, and humans. It inhibits YAP signaling, thereby suppressing cell proliferation and contributing to follicular dysfunction. Deletion of Igfbp4 in granulosa cells enhances ovulatory output, improves hormone profiles, and reproductive performance in aged female mice, suggesting ...
Qianhui Hu, Ajun Geng, Ziyuan Li, Fanghao Guo, Jingqiang Wang, Xinyi Chen, Meiling Zhang, Yi Arial Zeng, Wen Li   +8 more
wiley   +1 more source

Intravital Multimodal Imaging of Human Cortical Organoid Transplantation in a Mouse Model of Chronic Stroke

Advanced Science, EarlyView.
A multimodal intravital imaging platform enables longitudinal tracking of human cortical organoids transplanted into chronic stroke lesions. By combining surgical microscopy, MRI, bioluminescence imaging, and two‐photon fluorescence microscopy, the platform captures graft placement, viability dynamics, and cellular‐scale morphology in vivo, offering a ...
Jinghui Wang, Guanda Qiao, Honglin Tan, Colleen Russel, Baixuan Yang, Mengyang Jacky Li, Kexin Wang, Jiadi Xu, Chengyan Chu, Miroslaw Janowski, Tian‐Ming Fu, Piotr Walczak, Yajie Liang   +12 more
wiley   +1 more source

Etiological Spectrum and Diagnostic Approach in Primary Amenorrhea: Insights from a Case Series of 26 Patients

CHRISMED Journal of Health and Research
Background: Primary amenorrhea is a clinical sign with a diverse etiological spectrum, including chromosomal, structural, endocrine, and functional disorders.
Naga Bhagyasri, Prasun Deb, Smitha Nalla, Sandeep Devireddy, Kiran Kumar Bobba, Thushara Nayani   +5 more
doaj   +1 more source

A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother

Balkan Journal of Medical Genetics, 2015
Emanuel syndrome (ES) is a rare chromosomal disorder that is characterized by multiple congenital anomalies and developmental disabilities. Affected children are usually identified in the newborn period as the offspring of balanced (11;22) translocation ...
İkbal Atli E, Gürkan H, Vatansever Ü, Ulusal S, Tozkir H   +4 more
doaj   +1 more source

Two Routes to Land: Genomic Underpinnings of Parallel Aerial Egg Deposition in Aquatic Old‐World Pila and New‐World Pomacea (Ampullariidae)

Advanced Science, EarlyView.
Comparative genomics of Gondwana‐diverged Pila and Pomacea reveals parallel evolution of aerial oviposition. Convergent chromosomal rearrangements reshape regulatory landscapes within topologically associating domains. Lineage‐specific gene family expansions and viral‐derived perivitelline proteins (PV1) underpin desiccation resistance.
Yufei Zhou, Huawei Mu, Xueying Nie, Yue Gao, Hui Wang, Ling Fang, Tiangang Luan, Monthon Ganmanee, Jian‐Wen Qiu, Jin Sun, Jack Chi‐Ho Ip   +10 more
wiley   +1 more source