Results 121 to 130 of about 28,615 (209)

PAX8‐positive conventional urothelial carcinomas of the urinary bladder and their distinct molecular profiles – A clinicopathologic study of 101 consecutive cases with next‐generation sequencing in 20 cases

Histopathology, Volume 88, Issue 7, Page 1315-1323, June 2026.
PAX8 expression in urothelial carcinoma was investigated in 101 consecutive transurethral resections of the urinary bladder. PAX8 was positive in 10% of cases, with targeted molecular testing of these cases revealing universal TERT promoter mutations and frequent alterations in TSC1, NOTCH1 and WT1. Aims PAX8 immunohistochemistry (IHC) is often used to
Sarah Mae Lammert, Wendy Luo, Allen C Zhu, Peng Wang, Tatjana Antic, Jung Woo Kwon   +5 more
wiley   +1 more source

Loss of the tuberous sclerosis complex protein tuberin causes Purkinje cell degeneration

Neurobiology of Disease, 2011
Tuberous sclerosis complex (TSC) is a neurogenetic disorder that often causes brain abnormalities leading to epilepsy, developmental delay, and autism.
R. Michelle Reith, Sharon Way, James McKenna, III, Katherine Haines, Michael J. Gambello   +4 more
doaj   +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

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

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

Turmeric and curcumin: From traditional medicine to modern therapeutic applications

JSFA reports, Volume 6, Issue 5, Page 160-178, May 2026.
Abstract Turmeric (Curcuma longa), a medicinal plant, has maintained its cultural and therapeutic significance over centuries in Ayurveda, Unani, and Traditional Chinese Medicine. However, novel formulations and delivery methods are being developed to address these challenges.
Azma Nadeem, Khurram Afzal, Asad Abbas, Talha Bin Iqbal, Abdul Malik, Javaria Saeed, Mutjardah Zarrish, Bipindra Pandey   +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

Clinical molecular genetics in the UK c.1975-c.2000 [PDF]

, 2014
seminar transcriptChaired by Professor Martin Bobrow and introduced by Professor Bob Williamson, this Witness Seminar included geneticists from a broad range of research and clinical specialities.
Jones, EM, Tansey, EM
core  

Death-associated protein kinase 1: a double-edged sword in health and disease

Frontiers in Immunology
Death-associated protein kinase 1 (DAPK1) is a Ca2+/calmodulin-regulated serine/threonine kinase that orchestrates a wide array of cellular activities.
Xiuli Zhang, Yehuda G. Assaraf, Yao Lin
doaj   +1 more source