Results 121 to 130 of about 97,536 (245)

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

Reproductive Function and Fertility in Women with Congenital Adrenal Hyperplasia

European Medical Journal Reproductive Health, 2018
Congenital adrenal hyperplasia (CAH) refers to a group of disorders that are associated with defective adrenal steroidogenesis, the most common of which is 21-hydroxylase deficiency.
Nigel Pereira, Karen Lin-Su
doaj  

Adrenal Biomarkers of Stress in Transgender and Gender‐Diverse Adolescents

Developmental Psychobiology, Volume 68, Issue 3, May 2026.
ABSTRACT Transgender and gender diverse (TGD) adolescents are frequently exposed to minority stress, which may influence the hypothalamic–pituitary–adrenal (HPA) axis during critical developmental windows. Altered cortisol dynamics have been described in populations facing chronic stress, yet evidence in TGD youth is limited.
Simone Coslovich, Stefania Tonetto, Giulia Bragato, Gianluca Tamaro, Alice Fachin, Paolo Dalena, Lorenzo Zandonà, Antonella Fabretto, Egidio Barbi, Gianluca Tornese   +9 more
wiley   +1 more source

Metabolic Reprogramming Analysis of Wheat Response to Low Temperature Stress Under Nitrogen Supply

Food and Energy Security, Volume 15, Issue 3, May/June 2026.
Low temperature stress triggers a defense network that maintains growth at the expense of inhibiting photosynthesis and chlorophyll synthesis. Temperature recovery effectively repairs low temperature‐induced damage and enhances stress resistance, while nitrogen supply can further augment these protective processes to strengthen cold tolerance ...
Qiujuan Jiao, Haitao Liu, Zhijie Ren, Gezi Li, Lina Fan, Jiayu Hu, Yufang Huang, Shiliang Liu, Youliang Ye, Yanan Zhao   +9 more
wiley   +1 more source

How communitization begets and endures sarkarikaran: a witnessed history of community action for health in India’s national rural health mission

BMC Health Services Research
The legacy of Community Action for Health (CAH) in India traces back to the global momentum for primary health care galvanized by the Alma Ata Declaration and post–World War II social movements. In 2024, the World Health Assembly endorsed a resolution on
Devaki Nambiar, Neymat Chadha
doaj   +1 more source

Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
We report a Palestinian female infant with a homozygous pathogenic EFL1 variant (c.3284G>A; p.Arg1095Gln) causing Shwachman–Diamond syndrome type 2 (SDS2). Beyond the classical features of pancytopenia, exocrine pancreatic insufficiency, and growth failure, the patient showed previously unreported ocular manifestations—stage 2–3 retinopathy of ...
Ibrahim Taha, Antonella Minelli, Cesare Danesino, Abdelrahman Swalmeh, Khalil Huraibat, Liana Al‐Labadi, Rema Obar, Khaled R. Beshtawi, Lubna Abu Samrah, Yousef Awlad Mohammad, Aya Farah, Abdulrahman Obar, Mutasem Khalaf, Orwa Nasser   +13 more
wiley   +1 more source

Denoising framework for X‐ray absorption spectroscopy data

Journal of Synchrotron Radiation, Volume 33, Issue 3, Page 658-682, May 2026.
We introduce a high‐performance Python‐based XAS denoising package called XASDenoise, which implements our newly developed stationarity warping method and advanced denoising techniques based on Gaussian process regression and a convolutional autoencoder.X‐ray absorption spectroscopy (XAS) is a powerful tool for probing the structural and electronic ...
Tomas Aidukas, Ilnura Usmanova, Benjamín Béjar Haro, Maarten Nachtegaal, Adam H. Clark   +4 more
wiley   +1 more source

TERAHERTZ SPECTROSCOPY OF CaH [PDF]

Proceedings of the 2020 International Symposium on Molecular Spectroscopy, 2020
Kaori Kobayashi, Yoshiki Moriwaki, Fusakazu Matsushima, Tatsuki Sumi   +3 more
openaire   +1 more source

Oral Frailty and Physical Frailty Associated With Sleep Quality in Community‐Dwelling Adults: A Cross‐Sectional Study

Journal of Oral Rehabilitation, Volume 53, Issue 5, Page 999-1008, May 2026.
In community‐dwelling adults aged ≥ 65 years, swallowing difficulty and dry mouth were significantly associated with poor sleep quality. The combined presence of oral frailty and physical frailty further increased the risk of poor sleep quality. ABSTRACT Background Oral frailty and physical frailty are linked to adverse health outcomes in older adults,
Pei‐Chen Lin, Ai‐Hua Chang, Shin‐Ru Liao, Koichiro Matsuo, Yuji Kabasawa, Ju‐Hui Wu, Pei‐Chao Lin, Hsiao‐Ling Huang   +7 more
wiley   +1 more source

Bone mineral density determinants in adolescents and young adults with congenital adrenal hyperplasia

Frontiers in Pediatrics
BackgroundThe effects of long-term glucocorticoid (GC) treatment on bone mineral density (BMD) in patients with congenital adrenal hyperplasia (CAH) remain controversial.ObjectivesThis cross-sectional study aimed to evaluate BMD in relation to genotype ...
Ruta Navardauskaite, Aurika Vanckaviciene, Rasa Verkauskiene   +2 more
doaj   +1 more source