Results 51 to 60 of about 29,392 (272)

Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference [PDF]

, 2016
On March 10 to March 12, 2015, the National Institute of Neurological Disorders and Stroke and the Tuberous Sclerosis Alliance sponsored a workshop in Bethesda, Maryland, to assess progress and new opportunities for research in tuberous sclerosis complex
Darling, Thomas N, Pende, Mario, Thiele, Elizabeth, Ess, Kevin C, Bissler, John J, Nelson, Charles A, Chugani, Diane C, Wu, Joyce Y, Kwiatkowski, David J, Wagner, Andrew J, D'Arcangelo, Gabriella, Murphy, Leon O, Blenis, John, Moss, Joel, Franz, David, Nellist, Mark, St. Hillaire-Clarke, Coryse, de Vries, Petrus J, Klitgaard, Henrik, Klann, Eric, Paul, Elahna, Rosbeck, Kari Luther, Henske, Elizabeth P, Manning, Brendan D, Zervas, Mark, Song, Minkyung H, Weiner, Howard L, Perrimon, Norbert, Sahin, Mustafa, Young, Lisa R, Krueger, Darcy, Northrup, Hope, Crino, Peter B, Wong, Michael, Silva, Alcino J, Cichowski, Karen, Mamounas, Laura A, Long, Cara, Der, Channing, Bebin, E Martina, Gambello, Michael J, Shaw, Reuben J, Rieff, Heather, Roberds, Steven L, Byars, Anna W, Fureman, Brandy E, Macklin, Wendy B, Krymskaya, Vera P, Plan, Tuberous Sclerosis Complex Working Group to Update the Research   +48 more
core   +1 more source

G3BP1 Succinylation at K413 is Critical for Cardiac Function by Modulating PI3K‐AKT‐mTOR Signal Axis

Advanced Science, EarlyView.
Schematic illustrating the impact of G3BP1 succinylation at K413 on cardiac function. In the healthy human heart, G3BP1 succinylation maintains homeostatic mTOR signaling. In patients with dilated cardiomyopathy (DCM) and heart failure (HF), G3BP1 de‐succinylation induces RagA expression and disrupts the binding of the TSC1/2 complex, leading to the ...
Yuan Zhang, Cancan Yao, Yan Chen, Ke Cai, Zhouping Lu, Boxuan Wu, Kun Yu, Yan Shi, Jianyuan Zhao, Xiangyu Zhou   +9 more
wiley   +1 more source

A child with tuberous sclerosis having Novel NRAS gene mutation

Journal of Family Medicine and Primary Care
Tuberous sclerosis (TS) is a rare genetic disorder of autosomal-dominant inheritance. Mutations on either of the two genes Tuberous Sclerosis Complex 1 (TSC1) or Tuberous Sclerosis Complex 2 (TSC2) will lead to hamartomas formation involving many organs,
P. N. Liveinai, Neeraj Kumar, Jyoti Kadian, Dinkar Yadav, Kapil Bhalla   +4 more
doaj   +1 more source

Tuberous Sclerosis Complex with Renal Stones and Distal Renal Tubular Acidosis: Case Report and Literature Review

Oman Medical Journal, 2023
Distal renal tubular acidosis (RTA) is a common cause of renal stones and nephrocalcinosis in children. Distal RTA can be either acquired or congenital because of a genetic defect.
Anwar Al Omairi, Amna Al Futaisi
doaj   +1 more source

Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery

Advanced Science, EarlyView.
Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska, Kristina Bartmann, Georgea Raad, Mats Schade, Luiz Ladeira, Arif Dönmez, Jördis Klose, Nicolai Görts, Denis Polozij, Lynn‐Christin Saborowski, Farina Bendt, Bernard Staumont, Liesbet Geris, Katharina Koch, Ellen Fritsche   +14 more
wiley   +1 more source

Unusual adult-onset cardiac rhabdomyomas in tuberous sclerosis complex: a case report

Frontiers in Medicine
BackgroundTuberous sclerosis complex is a genetic neurocutaneous autosomal dominant syndrome, characterized by the development of multiple benign tumors (hamartomas) affecting various systems.
H. A. Nati-Castillo, Juan Manuel Quintero, Oswaldo Aguilar Molina, Marlon Arias-Intriago, Fernando P. Melgar Muñoz, Juan S. Izquierdo-Condoy   +5 more
doaj   +1 more source

Perivascular Epithelioid Cell Tumor (PEComa) of the Uterine Cervix in a Patient with Tuberous Sclerosis Complex: A Literature Review [PDF]

Türk Patoloji Dergisi, 2018
Perivascular epithelioid cell tumors (PEComa) are a rare type of mesenchymal tumor arising from perivascular epithelial cells. These tumor cells are a co-expression of both melanocytic and myogenic antigens, such as HMB 45 and smooth muscle actin, and at
Handan ÇELİK, Mehmet KEFELİ, Mehmet ÇETİNKAYA, Levent YILDIZ   +3 more
doaj   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

Tips and Tricks for Hardware Removal and Allograft Fixation After a Failed Latarjet Procedure

Arthroscopy Techniques, EarlyView.
Abstract Although relatively rare, recurrent anterior shoulder instability requiring revision surgery after a failed Latarjet procedure can result in complications such as graft malposition, graft osteolysis, broken hardware and/or infection. Revision surgery after a failed Latarjet is a challenge due to a combination of technical factors such as ...
Mikalyn T. DeFoor, Ryan J. Froom, Nate J. Dickinson, Colin P. Murphy, Max Vidal, Tomas Aguirre, Christopher Bine, Matthew T. Provencher   +7 more
wiley   +1 more source

Recent advances in the management of lymphangioleiomyomatosis [version 1; referees: 4 approved]

F1000Research, 2018
Lymphangioleiomyomatosis is a rare disorder that predominantly affects women and is characterized by progressive cystic changes in the lung, leading to gradually worsening shortness of breath and lung function impairment.
Kai-Feng Xu, Xinlun Tian, Jay H Ryu
doaj   +1 more source