Results 151 to 160 of about 4,846,243 (320)

Diagnostic yield of long-read sequencing for rare diseases: a systematic review

Frontiers in Genetics
BackgroundNearly half of patients with rare genetic disorders remain undiagnosed, which may in part be due to limitations of current short-read sequencing (SRS) approaches in detecting complex genomic alterations. Long-read whole genome sequencing (lrWGS)
Amal Abdulsalam Ibrahim, Khalid A. Fakhro, Khalid A. Fakhro, Khalid A. Fakhro, Atiyeh M. Abdallah   +4 more
doaj   +1 more source

An Adenoviral‐Vectored Tp0326 Vaccine Elicits Robust Functional Antibodies to Prevent Treponema pallidum Dissemination in a Rabbit Model

Advanced Science, EarlyView.
Vaccination promotes cellular infiltration into primary lesions and effectively inhibits T. pallidum dissemination to distal organs. Notably, transfer of lesion tissue from immunized animals fails to establish infection in naive recipients, confirming specific protective immunity.
Yinbo Jiang, Xinyuan Li, Lixia Huang, Xiangcai Zhang, Wujian Ke   +4 more
wiley   +1 more source

Review and perspective of molecular genetics and molecular diagnosis in neurogenetic disorders

Chinese Journal of Contemporary Neurology and Neurosurgery, 2012
DOI：10.3969/j.issn.1672⁃6731.2012.03 ...
Bei⁃sha TANG
doaj  

Alkylating Agent–Induced FANCL Impairment Damages Pulmonary Arterial, Venous, and Microvascular Endothelial Cells and Predisposes to PAH/PVOD

Advanced Science, EarlyView.
This study establishes a novel cisplatin‐induced rat model of PAH/PVOD and identifies a conserved mechanistic axis—FANCL impairment, DNA damage accumulation, and endothelial dysfunction—triggered by cisplatin or mitomycin C across pulmonary arteries, veins, and microvessels.
Shiyun Liu, Yufei Sun, Xinlei Wu, Haixia Chen, Shaocong Mo, Zichong Li, Yiwei Gong, Xiaoqian Shan, Yuanqi Li, Yaru Guan, Junqi Zhu, Han Yan, Min Du, Feng Wei, Peixin Ou, Ziyi Wang, Chenting Zhang, Lei Xu, Wenju Lu, Jian Wang, Kai Yang   +20 more
wiley   +1 more source

Tissue microarrays for testing basal biomarkers in familial breast cancer cases

São Paulo Medical Journal
CONTEXT AND OBJECTIVE: The proteins p63, p-cadherin and CK5 are consistently expressed by the basal and myoepithelial cells of the breast, although their expression in sporadic and familial breast cancer cases has yet to be fully defined.
Rozany Mucha Dufloth, Irina Matos, Fernando Schmitt, Luiz Carlos Zeferino   +3 more
doaj   +1 more source

A call for global action for rare diseases in Africa

, 2019
The 11th International Conference on Rare Diseases and Orphan Drugs (ICORD), South Africa, included the Africa-Rare initiative launch and facilitated multi-stakeholder engagement in the challenges facing, and opportunities for, Africans living with rare ...
Vorster, Barend C., Tebogo Selebatso, Kosaki, Kenjiro, Kumuthini, Judit, Selebatso, Moses, du Plessis, Kelly, Taruscio, Domenica, Austin, Christopher P., Nowak, Kristen, Mehrian-Shai, Ruty, Désirée Gavhed, Kelly du Plessis, Francois H. van der Westhuizen, Eda Selebatso, Barbara Wuebbels, Broley, Stephanie, Sergi Beltran, Zhang, Shuyang, Selebatso, Tebogo, Gemma A. Bilkey, Stojiljkovic, Maja, Chipeta, James, Emilio J. A. Roldan, William A. Gahl, Roldan, Emilio J.A., Gavhed, D. sirée, Larsson, Annika, Moses Selebatso, Barend C. Vorster, Gassman, Safiyya D., Forman, John, Manuel Posada, Cederroth, Helene, Nordgren, Ann, Reichardt, Juergen K.V., Emily P. Coles, Bilkey, Gemma A., van Karnebeek, Clara D. M., Gong, Mengchun, Kym M. Boycott, Posada, Manuel, Beltran, Sergi, Christoffer Nellaker, Maja Stojiljkovic, Adams, David R., Benjamin Djoudalbaye, Durhane Wong-Rieger, Sarah Bowdin, Clara D. M. van Karnebeek, Ratna D. Puri, Helene Cederroth, Puri, Ratna D., Dipesalema Joel, Judit Kumuthini, Pachter, Nicholas, Ann Nordgren, Christopher P. Austin, Selebatso, Eda, Mengchun Gong, James Chipeta, Nellaker, Christoffer, Stephanie Broley, Maximilian Muenke, Boycott, Kym M., Baynam, Gareth S., Gavhed, Désirée, Nicholas Pachter, Zhang, Feng, Boikobo Gaobinelwe, Maryke Schoonen, Kaufmann, Petra, John Forman, Petra Kaufmann, Roldan, Emilio J. A., Bayman, Gareth S., van Karnebeek, Clara D.M., Feng Zhang, Ruty Mehrian-Shai, David R. Adams, Gaobinelwe, Boikobo, Llera, Virginia A., Muenke, Maximilian, Coles, Emily P., Virginia A. Llera, Shuyang, Zhang, Reichardt, Juergen K. V., Wong-Rieger, Durhane, Groft, Stephen, Joel, Dipesalema, Gareth S. Baynam, Djoudalbaye, Benjamin, Annika Larsson, Juergen K. V. Reichardt, Easteal, Simon, Domenica Taruscio, Schoonen, Maryke, Kenjiro Kosaki, Kristen Nowak, Zhang Shuyang, Gahl, William A., Simon Easteal, Bowdin, Sarah, Stephen Groft, Safiyya D. Gassman, van der Westhuizen, Francois H., Wuebbels, Barbara   +105 more
core   +1 more source

Maternal Hyperglycemia Disrupts Cerebral Cortex Development Through the Foxp1‐Dll1‐Notch Axis

Advanced Science, EarlyView.
Maternal hyperglycemia disrupts offspring cortical development through a Foxp1–Dll1–Notch signaling axis. In a PGDM mouse model, intrauterine hyperglycemia decreases cortical thickness and perturbs neuronal layering by downregulating Foxp1, which transcriptionally regulates the Notch ligand Dll1.
Longkai He, Ya Jin, Guosheng Liu, Hao Liu, Xinyi Zhu, Weipeng Xu, Wei Li, Meiyao He, Yao Shen, Bingxiao Li, Xuesong Yang, Xiaoyu Wang, Shasha Han   +12 more
wiley   +1 more source

Mechanical Distraction Engages a Neuro‐Immune Program to Drive Regenerative Soft‐Tissue Healing in Ilizarov Bone Transport

Advanced Science, EarlyView.
Ilizarov bone transport accelerates healing of soft‐tissue wounds through unclear mechanisms. In a rat model, sustained mechanical distraction elicits calcitonin gene‐related peptide (CGRP)‐dominant sensory reinnervation, creating a niche that shifts immune cells from inflammatory to repair‐promoting states and speeds re‐epithelialization.
Yueliang Zhu, Jiayu Chen, Xuehuan Wen, Kaijia Tang, Ling Gao, Chenxing Wang, Yixuan Feng, Si‐He Qin, Tao Chen, Xiaohua Yu   +9 more
wiley   +1 more source

Implantable Systems for Cardiovascular Treatment and Monitoring: Comparative Insights From Intracardiovascular and Extracardiovascular Technologies

Advanced Intelligent Systems, EarlyView.
A unifying device–cardiovascular interface framework is presented to classify implantable cardiovascular technologies as intracardiovascular blood‐contacting systems or extracardiovascular tissue‐only and blood‐handling architectures. Cross‐class comparison across shared semiquantitative criteria, including blood‐contact burden, biomimicry ...
Bergo Nicolò, Semproni Federica, Maselli Martina, Colli Andrea, Cianchetti Matteo, Ciuti Gastone, Stefanini Cesare, Menciassi Arianna   +7 more
wiley   +1 more source

A Multidisciplinary Approach to a Seven Year-Old Patient with Incontinentia Pigmenti: A Case Report and Five-Year Follow Up

Frontiers in Dentistry, 2016
Incontinentia pigmenti is a rare inherited disorder involving abnormalities of the skin, hair, eyes, musculoskeletal system, central nervous system, and the teeth. Dental abnormalities are the most common manifestations of this disorder.
Rezvan Rafatjou, Fariborz Vafaee, Hanif Allahbakhshi, Porousha Mahjoub   +3 more
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