Results 41 to 50 of about 28,449 (238)

Interactive Karyotyping Training [PDF]

Journal of Krishna Institute of Medical Sciences University, 2013
Despite the wide use of newer techniques in genetic diagnostics, there remains a need for technologists to learn human chromosome morphology, identify abnormal metaphases and report clinical abnormalities.
Ashwin Kotwaliwale
doaj  

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

Soft‐Drug‐Inspired MnSTF Nano‐Adjuvant for Safe and Synergistic cGAS–STING Activation in Tumor Immunotherapy

Advanced Science, EarlyView.
This study introduces MnSTF, a soft‐drug‐inspired nanoadjuvant that overcomes the systemic toxicity of STING agonists. Through Mn2+ coordination with an ENPP1 inhibitor, it enables safe cGAS‐STING activation, remodels the tumor immune microenvironment, and synergizes with radiotherapy or vaccines to elicit robust antitumor immunity.
Guangfei Sun, Jiancheng Pan, Rui Li, Ruoxi Li, Ziyan Liu, Jinhui Wu, Tingsheng Lin, Yiqiao Hu, Ahu Yuan   +8 more
wiley   +1 more source

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

Connexin43 Deficiency Leads to Ventricular Arrhythmias by Reprogramming Proline Metabolism

Advanced Science, EarlyView.
The study demonstrated that connexin43 (Cx43) knockout caused arrhythmic phenotype and decreased proline content in vitro and in vivo. Mechanistically, Cx43 interacts with the amino acid transporter SNAT2 (sodium‐dependent neutral amino acid transporter), and its deficiency disrupts proline transport and metabolism.
Hangying Ying, Hangping Fan, Yunhe Wang, Ruhong Jiang, Dongsheng Cai, Hui Cheng, Hao Wang, Chenyang Jiang, Ping Liang   +8 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

Fluorescence In Situ Hybridization (FISH)-Based Karyotyping Reveals Rapid Evolution of Centromeric and Subtelomeric Repeats in Common Bean (Phaseolus vulgaris) and Relatives

G3: Genes, Genomes, Genetics, 2016
Fluorescence in situ hybridization (FISH)-based karyotyping is a powerful cytogenetics tool to study chromosome organization, behavior, and chromosome evolution.
Aiko Iwata-Otsubo, Brittany Radke, Seth Findley, Brian Abernathy, C. Eduardo Vallejos, Scott A. Jackson   +5 more
doaj   +1 more source

Mechanisms of Aristolochic Acid Resistance in Specialist Butterflies and Evolutionary Insights for Potential Protective Pathways

Advanced Science, EarlyView.
The study provides an extreme example of insect adaptation to highly toxic defenses of host plants, and investigates the complex strategies to resist carcinogenic aristolochic acids, including physical isolation, metabolic detoxification, and DNA repair.
Yang Luan, Yubo Zhang, Jingjing Li, Jianqing Zhu, Yuyang Lei, Yushi Hu, Zhenqiang Xin, Tianpei Xie, Jiang Zheng, Yuanyuan Lin, Jingjing Shen, Yiyi Cao, Xinyue You, Jing Xi, Jiaying Wu, Weiying Liu, Xinyu Zhang, Yuanting Zheng, David J. Lohman, Leming Shi, Wei Zhang   +20 more
wiley   +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

A rare case of salt wasting type of Congenital Adrenal Hyperplasia with Turner Syndrome

GAIMS Journal of Medical Sciences, 2022
Combination of Congenital Adrenal Hyperplasia (CAH) with Turner Syndrome (TS) is rare. We report a 20-days old new born, born from second degree consanguineous marriage presented with refusal of feeds, vomiting and loose stools. On examination, ambiguous
Karan B Patel, Lavanya Bandipelly, Parth Sanandiya   +2 more
doaj   +1 more source