Results 151 to 160 of about 43,008 (246)

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development

Journal of Intellectual Disability Research, Volume 70, Issue 6, Page 608-652, June 2026.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld, Louise Cox, Petri J. C. M. Embregts, Alistair R. Niemeijer, Martina C. Cornel, Charlotte M. W. Gaasterland, Agnies M. van Eeghen   +6 more
wiley   +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

Severe Renal Phenotype Across A Multigenerational Tuberous Sclerosis Complex (TSC) Family. [PDF]

Mol Genet Genomic Med
Tuller E, Samuels JA, Northrup H, Richardson K.   +3 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

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

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

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

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

Multifocal micronodular pneumocyte hyperplasia in the absence of tuberous sclerosis complex: A case report. [PDF]

Radiol Case Rep
Chikasue T, Zaizen Y, Tokisawa S, Sumi A, Mitsuoka M, Akiba J, Shioyama Y, Nagata S, Tanoue S, Fujimoto K.   +9 more
europepmc   +1 more source