Results 81 to 90 of about 13,340,828 (402)

Making tau amyloid models in vitro: a crucial and underestimated challenge

FEBS Letters, EarlyView.
This review highlights the challenges of producing in vitro amyloid assemblies of the tau protein. We review how accurately the existing protocols mimic tau deposits found in the brain of patients affected with tauopathies. We discuss the important properties that should be considered when forming amyloids and the benchmarks that should be used to ...
Julien Broc, Clara Piersson, Yann Fichou
wiley   +1 more source

A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency - a case report

Journal of Biochemical and Clinical Genetics
Background: The spleen tyrosine kinase (SYK) gene, located on chromosome 9q22.2, encodes a crucial cytoplasmic non-receptor tyrosine kinase involved in immune cell signaling, particularly in B and T cell receptor pathways. Mutations in SYK are linked to &
Aslı Guner Ozturk Demir, Akif Ayaz, Muhsin Elmas   +2 more
doaj   +1 more source

Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells

Cells, 2020
Mitochondria are involved in many cellular processes and their main role is cellular energy production. They constantly undergo fission and fusion, and these counteracting processes are under strict balance. The cytosolic dynamin-related protein 1, Drp1,
Liza Douiev, Ruth Sheffer, Gabriella Horvath, Ann Saada   +3 more
doaj   +1 more source

Emphasized the diagnosis and therapy of curative neurogenetic diseases

Chinese Journal of Contemporary Neurology and Neurosurgery, 2021
In recent years, great progress has been made in the treatment of neurogenetic diseases. Specific drugs have been used to treat diseases that were uncurable in the past, and there are noteworthy curative effects.
ZHANG Cheng
doaj   +1 more source

Mapping the genetic architecture of gene expression in human liver [PDF]

, 2008
Genetic variants that are associated with common human diseases do not lead directly to disease, but instead act on intermediate, molecular phenotypes that in turn induce changes in higher-order disease traits.
Avila-Campillo, I, Chudin, E, Derry, J, Drake, TA, Guengerich, FP, GuhaThakurta, D, Hao, K, Johnson, JM, Kasarskis, A, Kruger, MJ, Lamb, J, Lum, PY, Lusis, AJ, Mehrabian, M, Millstein, J, Molony, C, Rohl, CA, Rushmore, TH, Schadt, EE, Schuetz, E, Sieberts, S, Smith, RC, Storey, JD, Strom, SC, Suver, C, Ulrich, R, Van Nas, A, Wang, S, Yang, X, Zhang, B, Zhu, J   +30 more
core   +3 more sources

MicroRNAs and Long Non-coding RNAs in Genetic Diseases

Molecular Diagnosis & Therapy, 2019
Since the discovery and classification of non-coding RNAs, their roles have gained great attention. In this respect, microRNAs and long non-coding RNAs have been firmly demonstrated to be linked to regulation of gene expression and onset of human ...
A. Finotti, E. Fabbri, I. Lampronti, Jessica Gasparello, M. Borgatti, R. Gambari   +5 more
semanticscholar   +1 more source

The cytoskeletal control of B cell receptor and integrin signaling in normal B cells and chronic lymphocytic leukemia

FEBS Letters, EarlyView.
In lymphoid organs, antigen recognition and B cell receptor signaling rely on integrins and the cytoskeleton. Integrins act as mechanoreceptors, couple B cell receptor activation to cytoskeletal remodeling, and support immune synapse formation as well as antigen extraction.
Abhishek Pethe, Tanja Nicole Hartmann
wiley   +1 more source

Genomics of rare genetic diseases—experiences from India

Human Genomics, 2019
Home to a culturally heterogeneous population, India is also a melting pot of genetic diversity. The population architecture characterized by multiple endogamous groups with specific marriage patterns, including the widely prevalent practice of ...
Anjali Bajaj, Samatha Mathew, S. Vellarikkal, A. Sivadas, R. Bhoyar, Kandarp Joshi, Abhinav R Jain, A. Mishra, A. Verma, R. Jayarajan, A. Nalini, A. Kumar, A. Seeralar, Aayush Gupta, A. Srivastava, Aditi Joshi, A. Sinha, A. Jandial, Afreen Khan, A. Sonakar, A. Chandy, Aman Sharma, A. Roy, A. Rawat, Amitabh Biswas, Andrew Vanlalawma, A. Chaudhary, A. Chopra, Ankit Panday, A. Sabharwal, Ankita Mitra, A. Narang, A. Rajab, Anoop Kumar, A. Gurjar, A. Ranawat, R. Anu, A. Tiwary, Anuradha, Aquil Kalanad, A. Mathur, A. Lakshman, Arushi Batra, A. Bagga, A. Aggarwal, Ashok K. Gupta, A. Rastogi, P. Aslam, V. Astha, A. Nair, E. Athulya, Atri Chatterjee, A. Jindal, A. Kashyap, B. Priyadarshini, B. Thapa, B. Bhargava, B. Sharma, B. Jolly, Bharathram Uppilli, Bharathi Balachander, B. Shankar, B. Kar, B. Binukumar, C. Lalchhandama, Chaitanya Datar, Chetana Sachidanandan, D. Master, Daisy Khera, D. Chowdhury, D. Danda, Deepak Kumar, D. Pandhi, Deepti Siddharthan, D. Sharma, Divya Pachat, B. Sharma, Durga Rao Vegulada, G. Naidu, G. Padma, G. Vishnu Priya, G. Sharma, R. Gauthamen, G. Govindaraj, G. Varghese, S. Gireesh, G. Unnikrishnan, S. A. Hafiz, K. R. Hazeena, Heena Dhiman, Hema Singh, Hrishikesh Sarkar, Istaq Ahmed, J. Menon, J. Goraya, Jennifer Mathew, Jineesh Thottath, J. Sahu, J. Oswal, J. Menachery, J. Hariprakash, K. Bhargava, K. Talwar, K. M. Cherian, K. Aravindan, K. Pramila, K. Saroja, K. Shantaraman, Kavita Pandhare, Kiran Kumar Mandapati, P. Kiran, Kotha Rakesh, K. Shah, C. Krishnan, Kriti Shah, Kuldeep Singh, K. Anand, Lalawmpuii Pachuau, L. Chandrashekar, L. Rajasekhar, Lopamudra Mishra, M. Padma, M. Kabra, Madhumita Roy Chowdhary, Malika Seth, Maneesh K. Rai, Manish Kumar, M. Parakh, Manisha Goyal, M. Gurjar, M. Sahay, M. Rophina, M. Mukerji, Mohammed Ali, M. Faruq, M. Karippoth, M. Divakar, M. Jayakrishnan, Mukesh Kumar, M. Poojary, M. Prabhu, N. S. Kumar, N. Rais, N. Bhaskaranand, N. Bagri, N. Sankhyan, N. Awasthy, Neeraj Gupta, N. Parakh, Neerja Gupta, N. Bhari, Neetu Kushwaha, N. Sharma, N. Virmani, N. Kundu, N. Plakkal, Nishu Tyagi, N. Radhakrishnan, N. Naik, N. Rai, N. Mondal, Nupur Bhargava, P. Hari, Paras Sehgal, Piyush Kumar, P. Chauhan, P. Mailankody, Pooja Sharma, Poonam Parakh, P. Nair, P. Chakraborty, Prasanna Kumar Shirol, Pratibha Singh, Pratosh Gangadhar, Prawin Kumar, Purna Chandra, R. Krishnan, R. Srilakshmi, R. Lakshmi, R. Anantharaman, Radha Mahadevan, R. Mahajan, R. Shanmugam, R. Sharma, V. R. Rajendran, R. Dhamija, Rajit Pillai Ramanan, Rajive Kumar, A. Rajneesh, R. Juneja, R. Aggarwal, R. Sahay, S. Ramakrishnan, R. Narayanan, R. Shukla, R. Koshy, R. Kumari, Richa Chaudhary, R. Jain, Riyaz Arakkal, R. Rajan, R. Ravi, S. Baruah, S. Sitaraman, S. Chandra, S. Chenkual, V. Sailaja, S. Ambawat, S. Panda, Sana Zahra, Sanchit Kumar, S. Arora, S. Mathur, S. Seth, P. Sandhya, S. Goswami, Sangita Paul, S. Pandey, Santharaman Kalyanaraman, S. Patnaik, Saruchi Wadhwa, Sathi Venu, S. Nanda, Saumya Panda, S. Chopra, Saurabh Singh, P. Savinitha, S. Kapoor, Sesh Sivadasan, G. Sethuraman, S. Khan, C. Shaji, Shanmugam Gurusamy, S. Gulati, Shrey Gandhi, S. Ramalingam, Smita Nath, Somesh Kumar, Sona Sathian, S. Lakhani, Soumya S. Nair, Soumya Sundaram, Sourav Ghosh, S. Raju, S. Valappil, S. Nair, Srikanth Kadyada Puttaiah, Sruthi S. Nair, S. Geevarghese, S. Mohanty, S. Khandpur, Suman Jain, Sumeet, Sumit Sharma, Suruchi Trehan, Suvasini Sharma, Sweta Jain, Swetha Jain, T. Badam, S. Umamaheswari, Utkarsh Gaharwar, Uzma Shamim, V. Rao, V. Krishna, V. Jain, V. Suroliya, Varuna Vyas, V. Vedartham, S. Venketesh, V. Senthivel, V. Bhavi, V. Jadhav, V. Gera, V. Dixit, Vishal Gupta, Vishnu Agarwal, V. Vishnu, V. Gupta, K. V. Vysakha, Y. Sharma, S. Brahmachari, V. Scaria, S. Sivasubbu   +282 more
semanticscholar   +1 more source

Interaction vesicles as emerging mediators of host‐pathogen molecular crosstalk and their implications for infection dynamics

FEBS Letters, EarlyView.
Interaction extracellular vesicles (iEVs) are hybrid vesicles formed through host‐pathogen communication. They facilitate immune evasion, transfer pathogens' molecules, increase host cell uptake, and enhance virulence. This Perspective article illustrates the multifunctional roles of iEVs and highlights their emerging relevance in infection dynamics ...
Bruna Sabatke, Izadora Volpato Rossi, Marcel I. Ramirez   +2 more
wiley   +1 more source

Soluble Epoxide Hydrolase Inhibition for Ocular Diseases: Vision for the Future [PDF]

, 2019
Ocular diseases cause visual impairment and blindness, imposing a devastating impact on quality of life and a substantial societal economic burden. Many such diseases lack universally effective pharmacotherapies.
Corson, Timothy W., Park, Bomina
core   +1 more source