Results 131 to 140 of about 82,732 (241)

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies

Clinical Genetics, Volume 109, Issue 2, Page 305-315, February 2026.
Missense variants in TMEM17 disrupt its localization and function at the ciliary transition zone, leading to a wide range of ciliopathy phenotypes, from OFD6 and Joubert syndromes to Meckel syndrome. ABSTRACT Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability.
Lucile Boutaud, Chunmei Li, Candice Moncler, Laure Verlin, Meriem Garfa‐Traoré, Nicolas Bourgon, Dhruvin Akbari, Jeanne Porée, Valentina Serpieri, Marine Panza, Lynda Haddad, Patrick Nitschké, Jacqueline Aziza, Cristina Matt, Enza Maria Valente, Patricia Gargallo, Charlotte Dubucs, Tania Attié‐Bitach, Michel R. Leroux, Sophie Thomas   +19 more
wiley   +1 more source

Beyond BMI: Practical Guide for Clinicians to Integrate the Lancet Commission's Obesity Framework and King's Obesity Staging System

Clinical Obesity, Volume 16, Issue 1, February 2026.
ABSTRACT Body mass index (BMI) on its own is a poor diagnostic and staging tool for obesity because it does not measure health status. The newly published Lancet Clinical Obesity Criteria (LCOC) for defining clinical obesity distinguish preclinical and clinical obesity based on organ or tissue dysfunction.
Tak Ying Louise Ko, Alexander D. Miras, Dimitri J. Pournaras, Carel W. Le Roux   +3 more
wiley   +1 more source

Continuous Renal Replacement Therapy During Liver Transplant: The Anesthesiologist‐Nephrologist Collaboration at a Tertiary University Hospital in Italy

Clinical Transplantation, Volume 40, Issue 2, February 2026.
ABSTRACT Background: Acute kidney injury frequently complicates the end stages of liver diseases, worsening the condition of patients waiting for liver transplants. Continuous renal replacement therapy during liver transplant is still a limited experience, with large variability in the indication criteria.
Cristiana Laici, Davide Ricci, Dino Gibertoni, Elena Mancini, Annalisa Zucchelli, Antonio Siniscalchi   +5 more
wiley   +1 more source

Safety and efficacy of the therapy with CD4 + CD25highCD127‐T regulatory cells: When paediatric patient becomes adult

Diabetes, Obesity and Metabolism, Volume 28, Issue 2, Page 1392-1402, February 2026.
Abstract Aim CD4 + CD25highCD127‐T regulatory cells (Tregs) remain a drug candidate for immunotherapy of type 1 diabetes. We completed three trials testing Tregs in recently diagnosed type 1 diabetes children. Here, we looked for long‐term safety and efficacy aspects important in the authorisation of this therapy.
Marta Bandura, Magdalena Piotrowska‐Mieczkowska, Matylda Hennig, Mateusz Gliwiński, Anna Wołoszyn‐Durkiewicz, Julia Schoenhoff, Milena Dybowska, Anna Alska, Piotr Gutknecht, Bartosz Trzeciak, Katarzyna Stefańska, Paulina Glasner, Marcin Hellmann, Jacek Burzyński, Arkadiusz Michalak, Janusz Siebert, Dorota Iwaszkiewicz‐Grześ, Małgorzata Myśliwiec, Piotr Trzonkowski   +18 more
wiley   +1 more source

No relationship between total kindey volume class or genotype and 24h blood pressure control in adult ADPKD patients [PDF]

, 2018
Allamani, Mandelina, Devos, Hannes, Schots, Lisa, Tonnelier, Annelies, Van der Niepen, Patricia   +4 more
core   +2 more sources

Biochemical and Physiological Effects of Galanin in Health and Disease

The FASEB Journal, Volume 40, Issue 2, 31 January 2026.
Galanin is a biologically active neuropeptide hormone that mediates its effects through three galanin receptors. Galanin signaling induces changes in glucose homeostasis amongst others and plays a dynamic role in the physiological health of many organ systems.
Patrick Mireles, Yubo Wang, Kathryn Rhodes, Sharon DeMorrow   +3 more
wiley   +1 more source

Autosomal-dominante polyzystische Nierenerkrankung: Neue therapeutische Ansätze [PDF]

, 2018
Zusammenfassung: Die autosomal-dominante polyzystische Nierenerkrankung ("autosomal dominant polycystic kidney disease", ADPKD) ist die häufigste genetische Nierenerkrankung, sie betrifft weltweit etwa 6Mio. Menschen.
Poster, D., Serra, A.L., Wüthrich, R.P.
core  

Screening for intracranial aneurysms in ADPKD [PDF]

, 2009
Ong, A.C.M.
core   +1 more source

Polycystin 2 is increased in disease to protect against stress-induced cell death [PDF]

, 2020
Brill, Allison L., Campbell, Stuart G., Cantley, Lloyd G., Chung, Hee Jung, Ehrlich, Barbara E., Fischer, Tom T., Johnson, Eric K., Marlier, Arnaud, Moeckel, Gilbert, Nerbonne, Jeanne M., Robert, Marie E., Sewanan, Lorenzo R., Walters, Jennifer M., Wilson, Parker C.   +13 more
core   +1 more source

Giant thrombus entrapped by a patent foramen ovale in a patient with polycystic kidney disease

Clinical and Biomedical Research, 2017
Polycystic kidney disease (PKD) is the most common genetic cause of chronic kidney disease (CKD). The most common cause of death in patients with this condition is cardiovascular disease, mainly due to hypertension and its consequences.
Gustavo Neves de Araujo, Stéfani Mariani, Felipe Pereira Lima Marques, Lucas Simonetto Faganello, Luís Henrique Klafke, Douglas Dal Más Freitas, Solano Berger   +6 more
doaj   +2 more sources