Results 111 to 120 of about 31,123,995 (208)

Aspirin-exacerbated respiratory disease is associated with variants in filaggrin, epithelial integrity, and cellular interactions

Journal of Allergy and Clinical Immunology: Global
Background: Previous studies have determined that up to 6% of patients with aspirin-exacerbated respiratory disease (AERD) have family history of AERD, indicating a possible link with genetic polymorphisms.
Elina Jerschow, MD, MSc, Robert Dubin, PhD, Chien-Chang Chen, PhD, Alex iAkushev, MSc, Esha Sehanobish, PhD, Mohammad Asad, PhD, Sergio E. Chiarella, MD, Steven A. Porcelli, MD, John Greally, DMed, PhD   +8 more
doaj   +1 more source

Molecular Characterization and Putative Pathogenic Pathways of Tuberous Sclerosis Complex–Associated Renal Cell Carcinoma

Translational Oncology, 2018
Tuberous sclerosis complex–associated renal cell carcinoma (TSC-RCC) has distinct clinical and histopathologic features and is considered a specific subtype of RCC. The genetic alterations of TSC1 or TSC2 are responsible for the development of TSC.
Jeong Hwan Park, Cheol Lee, Mee Soo Chang, Kwangsoo Kim, Seongmin Choi, Hyunjung Lee, Hyun-Seob Lee, Kyung Chul Moon   +7 more
doaj   +1 more source

Beneficial Role of Natural Polyphenols Against Epilepsy: Greasing the Wheels of Pharmacotherapy Research for Epilepsy

Food Frontiers, Volume 7, Issue 6, November 2026.
ABSTRACT Epilepsy is the most disabling neurological disease that affects all economic classes, age groups, regions, and races. Although many antiseizure drugs are approved for epilepsy treatment, they fail to work in about 30%–40% of patients. Thus, there is a great need to identify better pharmacological agents to treat epilepsy.
Janakiraman Pillai Udaiyappan, Rengasamy Balakrishnan, Manivasagam Muthukumaran Tamilarasan, Subasri Pandian   +3 more
wiley   +1 more source

Genetics of tuberous sclerosis complex: implications for clinical practice

, 2016
Carolina Caban,1,2 Nubaira Khan,1,2 Daphne M Hasbani,3 Peter B Crino1,2 1Department of Neurology, 2Shriners Hospitals Pediatric Research Center, Temple University School of Medicine, 3Department of Neurology, St. Christopher’s Hospital for ...
Hasbani DM, Crino PB, Khan N, Caban C
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Tuberous Sclerosis Complex Renal Disease

, 2010
Although not as common as other genetic renal diseases such as autosomal dominant polycystic kidney disease, patients with tuberous sclerosis complex frequently have significant renal involvement.
Bradley P. Dixon, John J. Bissler, John C. Hulbert   +2 more
core   +1 more source

FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA [PDF]

, 2012
Mutations in the RNA binding protein FUS cause amyotrophic lateral sclerosis (ALS), a fatal adult motor neuron disease. Decreased expression of SMN causes the fatal childhood motor neuron disorder spinal muscular atrophy (SMA).
Das, Rita, Maniatis, Tom, Sharma, A, Yan, Biao, Tapia, JC, Gygi, Steve P., Monica A. Carrasco, Shneider, NA, Nishimura, AL, Chen, Shi, Yu, Yong, Sharma, Aarti, Yan, B, Gygi, SP, Christopher E. Shaw, Yamazaki, T, Steve P. Gygi, Siddharthan Chandran, Reed, Robin, Yu, Y, Aarti Sharma, Reed, R, Yong Yu, Rita Das, Das, R, Carrasco, Monica A., Zhai, Bo, Shneider, Neil A., Chen, S, Juan C. Tapia, Tapia, Juan C., Agnes Lumi Nishimura, Lalancette-Hebert, Melanie, Haertlein, TC, Tom Maniatis, Lalancette-Hebert, M, Biao Yan, Carrasco, MA, Neil A. Shneider, Yamazaki, Tomohiro, Nishimura, Agnes Lumi, Sullivan, G, Maniatis, T, Shaw, Christopher E., Shi Chen, Zhai, B, Melanie Lalancette-Hebert, Sullivan, Gareth, Tyler C. Haertlein, Shaw, CE, Chandran, S, Haertlein, Tyler C., Tomohiro Yamazaki, Gareth Sullivan, Robin Reed, Bo Zhai, Chandran, Siddharthan   +56 more
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Building a precision therapeutics program at a tertiary care children's hospital

Pediatric Investigation, EarlyView.
Luke Hamilton, Heidi Trinkman, Diana Carrasco, Kaitlin Smith, Kelly Vallance, Alejandra Dominguez, Danielle Miller, Megan Gibbs, Anish Ray   +8 more
wiley   +1 more source

Attrition in a telehealth caregiver‐mediated behavioral intervention for children with tuberous sclerosis complex: A mixed‐methods study

Developmental Medicine &Child Neurology, Volume 68, Issue 11, Page 1621-1629, November 2026.
Exploratory quantitative analyses suggested that higher seizure severity and COVID‐era enrollment were associated with lower intervention completion, while qualitative findings identified cumulative caregiver burden, medical instability, competing demands, and perceived intervention fit as contributors to attrition.
Carly Hyde Tillis, Connie Kasari, Nicole McDonald, Monique Vobecky, Maria Pizzano, Jonathan Panganiban, Brandon Gharapetian, Elise Y. Tran, Charles A. Nelson, Elizabeth A. Thiele, Shafali Jeste   +10 more
wiley   +1 more source

Study of the relationship between tuberous sclerosis complex and autistic disorder

, 2006
There has been increasing awareness that there are behavioral phenotypes in tuberous sclerosis complex with neuropsychiatric symptom complex such as autistic disorder and attention-deficit hyperactivity disorder (ADHD).
Wong, V, Virginia Wong
core   +1 more source

Congenital pachygyria

Chinese Journal of Contemporary Neurology and Neurosurgery, 2016
Objective To investigate the imaging and clinicopathological features of pachygyria limited in the right temporo-parieto-occipital lobe and the key points of its diagnosis and treatment, in order to improve the recognition of this disease.
Jing-xia HU, Qiu-ping GUI, Wen-jing ZHOU, Mei-mei SUN, Jie LI, Xin SONG   +5 more
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