Results 61 to 70 of about 17,906 (224)

Genetic Insights Into AVP Deficiency: Identification of a Novel AVP Variant and Compilation of a Curated Catalogue of Pathogenic Variants

Clinical Genetics, EarlyView.
We identified a novel pathogenic AVP variant in two Danish families with autosomal dominant inheritance of symptoms of AVP deficiency. In addition, we compiled a catalogue of additionally 109 AVP variants that cause AVP deficiency and demonstrated the advantage of combining expert‐assisted curation, literature search, and online repositories to ensure ...
Jennifa Joseph, Esben Søndergaard, Sine Knorr, Jane Hagelskjær Knudsen, Søren Rittig, Jane Hvarregaard Christensen   +5 more
wiley   +1 more source

Claudins in the Renal Collecting Duct [PDF]

, 2019
The renal collecting duct fine-tunes urinary composition, and thereby, coordinates key physiological processes, such as volume/blood pressure regulation, electrolyte-free water reabsorption, and acid-base homeostasis.
Leiz, Janna, Schmitt-Ott, Kai M.
core   +1 more source

Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development

Journal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.
Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah, Anna Wilsdon, Aseel Abbad, Sophie Rochette, Frances Bu'Lock, Asma Ali Saed, Marc‐Phillip Hitz, J. David Brook, Siobhan Loughna   +8 more
wiley   +1 more source

Efficacy of vinblastine in central nervous system Langerhans cell histiocytosis: a nationwide retrospective study [PDF]

, 2011
Background Vinblastine (VBL) is the standard treatment for systemic Langerhans cell histiocytosis (LCH), but little is known about its efficacy in central nervous system (CNS) mass lesions. Methods
Sophie Ng Wing Tin, Nadine Martin-Duverneuil, Ahmed Idbaih, Catherine Garel, Maria Ribeiro, Judith Parker, Anne-Sophie Defachelles, Anne Lambilliotte, Mohamed Barkaoui, Martine Munzer, Martine Gardembas, Jean Sibilia, Patrick Lutz, Renato Fior, Michel Polak, Alain Robert, Olivier Aumaitre, Dominique Plantaz, Corinne Armari-Alla, Thierry Genereau, Perrine Berard, Ghislain Talom, Jean-Loup Pennaforte, Hubert Le Pointe, Marie-Anne Barthez, Gérard Couillault, Julien Haroche, Karima Mokhtari, Jean Donadieu, Khê Hoang-Xuan, null null   +30 more
core   +2 more sources

Psychogenic polydipsia in dogs – a review of pathogenesis, diagnosis and treatment

Journal of Small Animal Practice, EarlyView.
Polyuria and polydipsia represent a common clinical presentation in dogs and may result from numerous disorders affecting different body systems. Compulsive water consumption is characteristic of psychogenic polydipsia, a primary polydipsia disorder rooted in neurologic, behavioural or environmental factors.
G. Pavlovsky
wiley   +1 more source

Developmental hypomyelination in Wolfram syndrome: New insights from neuroimaging and gene expression analyses [PDF]

, 2019
Wolfram syndrome is a rare multisystem disorder caused by mutations in WFS1 or CISD2 genes leading to brain structural abnormalities and neurological symptoms. These abnormalities appear in early stages of the disease.
Dougherty, Joseph, Hershey, Tamara, Marshall, Bess, Neyman, Olga, Park, Ki Yun, Rahn, Rachel, Samara, Ahmad, Samara, Amjad   +7 more
core   +1 more source

Impact of recurrent dehydration with mild periodic water restriction on blood pressure and renal function in male spontaneously hypertensive rats

Experimental Physiology, EarlyView.
Abstract The kidneys regulate fluid balance but are susceptible to adverse effects of inadequate hydration. Epidemiological studies have linked low water intake to renal dysfunction and chronic kidney disease. Previously we showed that restricting water intake to a single 2‐h period daily for 4 weeks promotes hypertension as well as renal inflammation,
Katrina M. Mirabito Colafella, Peter N. H. Nguyen, Zoe McArdle, Debra Fong, Edmund Kwok, Kate M. Denton, Antony Vinh, Lucinda M. Hilliard Krause   +7 more
wiley   +1 more source

Clinical Insights Into Hypercalcemia of Malignancy in Childhood

Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.
ABSTRACT Hypercalcemia of malignancy (HCM) is a rare but life‐threatening metabolic emergency in children that occurs in less than 1% of pediatric cancer cases, with a reported incidence ranging from 0.4% to 1.0% across different studies. While it is observed in 10%–20% of adult malignancies, pediatric HCM remains relatively uncommon.
Hüseyin Anıl Korkmaz
wiley   +1 more source

Successful Treatment of Transient Central Diabetes Insipidus following Traumatic Brain Injury in a Dog

Case Reports in Veterinary Medicine, 2019
An 11-year-old female spayed Maltese presented comatose, half an hour after vehicular trauma, and was treated for traumatic brain injury and pulmonary contusions.
Catriona Croton, Sarah Purcell, Andrea Schoep, Mark Haworth   +3 more
doaj   +1 more source

Altered agonist sensitivity of a mutant V2 receptor suggests a novel therapeutic strategy for nephrogenic diabetes insipidus. [PDF]

, 2014
Loss of function mutations of the type 2 vasopressin receptor (V2R) in kidney can lead to nephrogenic diabetes insipidus (NDI). We studied a previously described, but uncharacterized mutation of V2R (N321K missense mutation) of an NDI patient.
Balla, András, Erdélyi, László Sándor, Hunyady, László, Patócs, Attila, Tóth, Miklós, Várnai, Péter   +5 more
core   +1 more source