Results 81 to 90 of about 295,934 (166)

Transcriptomic study in explanted liver from a patient with acute intermittent porphyria

JIMD Reports, 2023
Acute intermittent porphyria (AIP) is a rare disease caused by a deficiency of hydroxymethylbilane synthase (HMBS), the third enzyme of the heme‐synthesis pathway. Decreased enzymatic activity in the liver induces an overproduction of heme‐precursors and
Jordi To‐Figueras, Esther Titos, Paula Aguilera, Alba Díaz, Javier Muñoz‐Luque, Irene Madrigal, Celia Badenas, Mercè Torra, Constantino Fondevila, Jordi Colmenero   +9 more
doaj   +1 more source

Gene Dosage Sensitivity and Human Genetic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Here we review the historical background and contemporary insights into genetic dominance, focusing on haploinsufficiency (HI), that is, when the function of only one allele of a gene is not enough to ensure a normal phenotype in a diploid organism.
Reiner A. Veitia, Johannes Zschocke, James A. Birchler   +2 more
wiley   +1 more source

A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria

Liver International, Volume 45, Issue 7, July 2025.
ABSTRACT Background and Aims This study aimed to characterise symptoms and assess the prevalence of elevated urine porphyrin precursors in first‐degree relatives of acute hepatic porphyria (AHP) patients who have never experienced acute attacks and had no previous AHP genetic or biochemical testing.
Mohsen Merati, Nanditha Jayakumar, Yuvraaj Kapoor, Hetanshi Naik, Manisha Balwani, Karl E. Anderson, Herbert L. Bonkovsky, Robert J. Desnick, Brendan McGuire, John Phillips, D. Montgomery Bissell, Bruce Wang   +11 more
wiley   +1 more source

No evidence for sylvatic cycles of chikungunya, dengue and Zika viruses in African green monkeys (Chlorocebus aethiops sabaeus) on St. Kitts, West Indies

Parasites & Vectors, 2020
Background Dengue, chikungunya and Zika viruses (DENV, CHIKV and ZIKV) are transmitted in sylvatic transmission cycles between non-human primates and forest (sylvan) mosquitoes in Africa and Asia.
Matthew John Valentine, Brenda Ciraola, Matthew Thomas Aliota, Michel Vandenplas, Silvia Marchi, Bernard Tenebray, Isabelle Leparc-Goffart, Christa Ann Gallagher, Amy Beierschmitt, Tatiana Corey, Kerry McAuliffe Dore, Xavier de Lamballerie, Chengming Wang, Courtney Cuin Murdock, Patrick John Kelly   +14 more
doaj   +1 more source

Porphyric encephalopathy in a 15-year-old girl: A case report

SAGE Open Medical Case Reports
A 15-year-old girl presented with new onset tonic-clonic seizures, encephalopathy, abdominal pain, and hypertension with a history of weight loss and emesis.
Saihari S Dukkipati, Jordan Terschluse, Drew Thodeson, Angela Beavers, Melissa Muff-Luett, Claire Ives, Sookyong Koh   +6 more
doaj   +1 more source

Increased Mitochondrial Superoxide Level Is Partially Associated With Vemurafenib‐Induced Renal Tubular Toxicity

Basic &Clinical Pharmacology &Toxicology, Volume 136, Issue 4, April 2025.
Vemurafenib (VEM) induces renal tubular toxicity through mitochondrial dysfunction and lysosomal abnormalities. Superoxide production is a key factor, and mitochondrial antioxidant XJB‐5‐131 partially alleviated this toxicity. Autophagy impairment is also suggested.
Akimasa Sanagawa, Hiroshi Takase
wiley   +1 more source

Liver transplantation and primary liver cancer in porphyria

Liver International, Volume 45, Issue 3, March 2025.
Abstract The porphyrias are a heterogeneous group of metabolic disorders that result from defects in heme synthesis. The metabolic defects are present in all cells, but symptoms are mainly cutaneous or related to neuropathy. The porphyrias are highly relevant to hepatologists since patients can present with symptoms and complications that require liver
Mattias Lissing, Bruce Wang, Staffan Wahlin   +2 more
wiley   +1 more source

Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria

Frontiers in Pharmacology, 2019
The rare autosomal dominant disorder acute intermittent porphyria (AIP) is caused by the deficient activity of hydroxymethylbilane synthase (HMBS).
Yibao Fu, Jinmeng Jia, Lishu Yue, Ruiying Yang, Yongli Guo, Yongli Guo, Yongli Guo, Xin Ni, Xin Ni, Xin Ni, Tieliu Shi, Tieliu Shi   +11 more
doaj   +1 more source

Zinc signaling controls astrocyte‐dependent synapse modulation via the PAF receptor pathway

Journal of Neurochemistry, Volume 169, Issue 2, February 2025.
Low zinc bioavailability triggers inflammatory signaling through chronic activation of astrocytes via the PAFR. Active astrocytes release ROS, metabolites, and cytokines that affect synapse formation in developing neurons. Adequate zinc status prevents astrocyte (over)activation. PAFR, platelet activation factor receptor.
Janelle E. Stanton, Sakshi Hans, Ioannis Zabetakis, Andreas M. Grabrucker   +3 more
wiley   +1 more source

First report of Babesia gibsoni in Central America and survey for vector-borne infections in dogs from Nicaragua

Parasites & Vectors, 2014
Background Although many vector-borne diseases are important causes of morbidity and mortality in dogs in tropical areas and potential zoonoses, there is little information on these conditions in Central America.
Lanjing Wei, Patrick Kelly, Kate Ackerson, Jilei Zhang, Heba S El-Mahallawy, Bernhard Kaltenboeck, Chengming Wang   +6 more
doaj   +1 more source