Results 51 to 60 of about 2,195 (151)

Hemotórax espontáneo: una forma inusual de presentación de la porfiria intermitente aguda

Biomédica: revista del Instituto Nacional de Salud, 2009
Las porfirias son un grupo de alteraciones metabólicas de la síntesis del hem, de carácter hereditario. Son condiciones relativamente raras, de difícil diagnóstico, pero con una respuesta impresionante al tratamiento y con buen pronóstico, si se ...
Juliana Buitrago, Sandra Viviana Santa
doaj   +1 more source

Plastid Engineering for Photosynthesis‐Driven Synthesis of Hyaluronic Acid in Tobacco

Plant Biotechnology Journal, Volume 24, Issue 4, Page 2541-2558, April 2026.
ABSTRACT Hyaluronic acid (HA) is a glycosaminoglycan composed of alternating units of N‐acetylglucosamine and glucuronic acid. High moisture retention, viscoelasticity and biocompatibility are unique features that make HA polymers attractive compounds for medical applications and aesthetic purposes.
Amanda Lopes, Omar Sandoval‐Ibáñez, Stéphanie Arrivault, David Rolo, F. Vanessa Loiacono, Alexander Erban, Daniel Karcher, Stephan Obst, Stephanie Ruf, Joachim Kopka, Ralph Bock   +10 more
wiley   +1 more source

Acute intermittent porphyria: A case report with an unlisted HMBS gene variant (c.345–2A>C)

Brain Disorders
We report a case of acute intermittent porphyria in a 19-year-old patient, linked to an unlisted variant of the gene encoding hydroxymethylbilane synthase c.345–2A>C.
Julien Lerusse, Dominique Dive, François Charles Wang   +2 more
doaj   +1 more source

Selection of housekeeping genes for quantitative gene expression analysis in yellow-feathered broilers

Italian Journal of Animal Science, 2018
The aim of this study was designed to select housekeeping genes for quantitative gene expression analysis in yellow-feathered broilers. Twelve 3-week-old chickens were randomly selected from 60 yellow-feathered broilers.
Jie Zhang, Yu-Yun Gao, Yi-Qiang Huang, Qian Fan, Xin-Tao Lu, Chang-Kang Wang   +5 more
doaj   +1 more source

Placental iron utilisation in fetal growth restriction: alterations in mitochondrial haem synthesis and iron–sulphur cluster assembly pathways

The Journal of Physiology, Volume 604, Issue 5, Page 2229-2249, 1 March 2026.
Abstract figure legend Altered iron handling and mitochondrial pathways in FGR placentas. Placental tissue from FGR pregnancies showed increased expression of iron importers, transferrin and divalent metal transporter 1, and decreased expression of the iron exporter ferroportin, suggesting that the FGR placenta is retaining iron to meet its own ...
Veronica B. Botha, Heather C. Murray, Siddharth Acharya, Kirsty G. Pringle, Roger Smith, Joshua J. Fisher   +5 more
wiley   +1 more source

Hydroxymethylbilane Synthase Gene Mutation: The Hidden Driver of Abdominal Pain and Neurological Symptoms in Acute Intermittent Porphyria

Journal of Applied Hematology
Mutations in the hydroxymethylbilane synthase (HMBS) gene can lead to a deficiency of the HMBS enzyme, allowing porphyrins to accumulate to toxic levels in the liver and other organs, leading to acute intermittent porphyria (AIP).
Abeer Zakariyah*, Rahaf Alzahrani, Iman Alhazmi, Alia Abotaleb, Mohammed Alasmari, Abdulrahim Basendwah, Rasha Alsubaie, Muhammad Sohaib Khan, Leena Alnajjar, Sultan Altouri   +9 more
doaj   +1 more source

Acute intermittent porphyria: a test of clinical acumen

Journal of Community Hospital Internal Medicine Perspectives, 2017
Acute intermittent porphyria (AIP) is a rare autosomal dominant hepatic porphyria due to deficiency of hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase leading to accumulation of porphyrin precursors.
Rashmi Dhital, Sijan Basnet, Dilli Ram Poudel, Khema Raj Bhusal   +3 more
doaj   +1 more source

Cytological, physiological and transcriptomic analysis of variegated Leaves in Primulina pungentisepala offspring

BMC Plant Biology, 2022
Background Primulina pungentisepala is suitable for use as a potted plant because of its beautiful leaf variegation, which is significantly different in its selfed offspring. However, the mechanism of P. pungentisepala leaf variegation is unclear.
Jiancun Chen, Yueya Li, Dong He, Meng Bai, Bo Li, Qixiang Zhang, Le Luo   +6 more
doaj   +1 more source

The effect of mitoTEMPO on the development of hypoxia‐induced pulmonary hypertension in male mice

Physiological Reports, Volume 14, Issue 5, March 2026.
MitoTEMPO targets mitochondrial superoxide (O2•−) but showed no protective effect on chronic hypoxia–induced pulmonary hypertension. Pulmonary artery remodeling and right ventricular remodeling developed despite treatment. Abstract Mitochondrial reactive oxygen species (mtROS) have been implicated in the development of chronic hypoxia‐induced pulmonary
Esraa M. Zeidan, Sai Aparna Nagarajan, Akylbek Sydykov, Jens Bier, Monika Brosien, Ashraf Taye, Oleg Pak, Hossein A. Ghofrani, Ralph Theo Schermuly, Werner Seeger, Norbert Weissmann, Natascha Sommer, Claudio Nardiello   +12 more
wiley   +1 more source

Acute Intermittent Porphyria: Flaccid Quadriplegia and Encephalopathy due to Posterior Reversible Encephalopathy Syndrome (PRES) [PDF]

Liaquat National Journal of Primary Care
A deficiency of the enzyme HMB Hydroxymethylbilane synthase function, also known as porphobilinogen deaminase, leads to the emergence of acute intermittent porphyria (AIP). AIP is an uncommon form of hepatic porphyria inherited in an autosomal dominant
Saba Zaidi, Ayesha Abdul Samad, Ayesha Jaka   +2 more
doaj   +1 more source