Results 181 to 190 of about 50,774 (290)

Kidneys in Children with Tuberous Sclerosis Complex-An Up-to-Date Review. [PDF]

J Clin Med
Wabik AM, Pytlos J, Michalczewska A, Skrzypczyk P.   +3 more
europepmc   +1 more source

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model

Annals of Neurology, Volume 99, Issue 5, Page 1287-1302, May 2026.
Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins, Philip H. Iffland II, John Page, Rebecca Z. Flessner, Soad M. Elziny, Irina Sbornova, Janice K. Babus, Sophie R. Bruckmeier, Ria Parikh, Merel Verhoeven, James Fasham, Joseph S. Leslie, Richard Caswell, Nishanka Ubeyratna, Olivia Wenger, Ethan M. Scott, John Schreiber, Steffen Syrbe, Annick Klabunde‐Cherwon, Martina Owens, Andrew H. Crosby, Emma L. Baple, Peter B. Crino, the KPTN Consortium, Andrea Seeley, Heather Rocha, Sabine Rudnick, Ulrich Schaatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Ian Ellis, Raza Maroofian, Almundher Al‐Maawali, David Coman, Anthony Morosini, Sajjad Biglari, Pooneh Nikuei, Saadet Mercimek‐Andrews, Prab Prabhakar, Raymond Louie, Kameryn Butler, Olivia Wenger, Ethan M. Scott, Andrea Seeley, Heather Rocha, Amber Begtrup, Sabine Rudnik, Ulrich Schatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Marijn Stokman, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Kristina Zhelcheska, Henry Houlden, Ian Ellis, Reza Maroofian, Gholamreza Shariati, Hamid Galehdari, Almundher Al‐Maawali, Adila Al‐Kindi, Andrew Y. Shuen, Victoria Siu, Annick Klabunde‐Cherwon, Steffen Syrbe   +104 more
wiley   +1 more source

Shagreen Patch in Tuberous Sclerosis Complex at High-Frequency Ultrasound. [PDF]

Diagnostics (Basel)
Tagliati C, Wortsman X.
europepmc   +1 more source

Cannabinoids and drug–drug pharmacokinetic interactions: Deciphering the risks

British Journal of Clinical Pharmacology, Volume 92, Issue 5, Page 1287-1308, May 2026.
The relationship between cannabinoids and mental health has become a major focus of scientific inquiry and public discourse. Cannabinoids are diverse chemical compounds from the Cannabis species that have been explored for their therapeutic applications in treating chronic pain, psychiatric and neurological conditions, such as depression, schizophrenia,
Paraskevi Papakyriakopoulou, Georgia Valsami, Georgios Ismailos   +2 more
wiley   +1 more source

Advantages of optical coherence tomography in assessing retinal astrocytic hamartomas in children with tuberous sclerosis complex. [PDF]

Front Med (Lausanne)
Dou G, Zhou Z, Sun J, Zhang Z, Wang C, Sun D, Zhu J, Zhu Y, Zhang H, Wang Q, Li M, Deng Y, Wang Y.   +12 more
europepmc   +1 more source

VGLL3 Regulates DAPK2‐Mediated Autophagy During Osteoblast Differentiation

BioFactors, Volume 52, Issue 3, May/June 2026.
VGLL3 regulates autophagic activity during osteoblast differentiation and is associated with DAPK2‐mediated autophagy. Overexpression of Dapk2 partially restores autophagy and osteogenic differentiation in Vgll3‐deficient osteoblasts. ABSTRACT Vestigial‐like family member 3 (VGLL3), a transcriptional cofactor of the TEA domain family, has been ...
Yuhan He, Ziyi Wang, Yao Weng, Heriati Sitosari, Yilin Zheng, Yaxin Qu, Mika Ikegame, Hirohiko Okamura   +7 more
wiley   +1 more source

Targeted Therapy and Immunotherapies in Hepatocellular Carcinoma: Mechanisms and Clinical Studies

MedComm, Volume 7, Issue 5, May 2026.
The mechanism of multiple signaling pathways and their related targeted inhibitors in HCC. (A) The mechanism of Ras/Raf/MEK/ERK signaling pathway and its related targeted inhibitors; (B) the mechanism of PI3K/AKT/mTOR signaling pathway and its crosstalk with other pathways and its related targeted inhibitors; (C) the mechanism of JAK/STAT signaling ...
Penghui He, Sinan Xie, Kunlin Xie, Fengwei Gao, Yunshi Cai, Yan Huang, Chang Liu, Hong Wu, Yinghao Lyu, Tian Lan   +9 more
wiley   +1 more source

Antenatal diagnosis and maternal sirolimus treatment of polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Background Polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome is a rare autosomal recessive mTORopathy caused by biallelic STE20‐related kinase adaptor alpha (STRADA) loss‐of‐function variants. Animal models demonstrate that in utero mechanistic target of rapamycin (mTOR) inhibition can prevent cortical dyslamination ...
Christian Macedonia, Vincent J. Carson, D. Holmes Morton, Karin J. Blakemore, Mark I. Evans, Peter B. Crino   +5 more
wiley   +1 more source

Patella baja post tibial plateau levelling osteotomy on a 7‐year‐old Bichon Frise

Veterinary Record Case Reports, Volume 14, Issue 2, May 2026.
Abstract A 7‐year‐old, male, neutered Bichon Frise presented with a 3‐month history of intermittent lameness 18 months post tibial plateau levelling osteotomy as treatment for cranial cruciate ligament rupture. On the physical examination, hyperextension of the right stifle joint was detected.
Georgios Vlachomitros, Mark Alexander Bush   +1 more
wiley   +1 more source

Ultrasonographic diagnosis of caudoproximal humeral stress fracture in thoroughbred racehorses

Equine Veterinary Journal, Volume 58, Issue 3, Page 788-796, May 2026.
Abstract Background Humeral stress fractures in racehorses can progress to catastrophic fracture if unrecognised. Scintigraphy is the gold standard diagnostic technique but is limited by accessibility and cost. It was hypothesised that ultrasonography could be used to visualise caudoproximal humeral stress fractures. Objectives To determine the utility
Betsy Vaughan, Erin R. McKerney, Carolyn Wollenberger, Ashton Cloninger, Mathieu Spriet, Larry Galuppo, Susan M. Stover   +6 more
wiley   +1 more source