Results 71 to 80 of about 8,773 (221)

A case of fatal acute intermittent porphyria: laboratory diagnosis and pathogenesis considerations / Un caz fatal de porfirie acută intermitentă: diagnostic de laborator şi consideraţii patogenice

open access: yesRomanian Journal of Laboratory Medicine, 2014
Porfiria acută intermitentă (PAI) este o boală metabolică, cu transmitere autosomal dominantă, cu alterarea căii de biosinteză a hemului prin deficitul enzimei porphobilinogen (PBG) dezaminaza. Acest diagnostic trebuie să fie evocate în toate cazurile de
Bălaşa Rodica   +5 more
doaj   +1 more source

Strain engineering and bioprocessing strategies for biobased production of porphobilinogen in Escherichia coli

open access: yesBioresources and Bioprocessing, 2021
Strain engineering and bioprocessing strategies were applied for biobased production of porphobilinogen (PBG) using Escherichia coli as the cell factory.
Davinder Lall   +6 more
doaj   +1 more source

General anaesthesia in acute intermittent porphyria [PDF]

open access: yes, 2014
Acute intermittent porphyria (AIP) is caused by the deficiency of porphobilinogen deaminase, a haem synthesis enzyme, giving rise to crises characterized by abdominal pain, tachyarrythmias and psychiatric features.
Abela, Glenn Paul, Calleja, Paul
core  

A comparative genomics perspective on the genetic content of the alkaliphilic haloarchaeon Natrialba magadii ATCC 43099T [PDF]

open access: yes, 2012
BACKGROUND: Natrialba magadii is an aerobic chemoorganotrophic member of the Euryarchaeota and is a dual extremophile requiring alkaline conditions and hypersalinity for optimal growth. The genome sequence of Nab.
Diego E Sastre   +15 more
core   +2 more sources

Nanosensors in Leukemia Management: Pioneering Real‐Time Biomarker Detection for Precision Oncology

open access: yesNano Select, Volume 6, Issue 12, December 2025.
This review highlights pioneering nanosensors designed for real‐time leukemia biomarker detection, integrating advanced nanomaterials such as liposomes, polymeric nanoparticles and quantum dots. It examines electrochemical, optical and magnetic detection mechanisms, the applications across AML, ALL, CML, and CLL subtypes, and clinical translation ...
Hamed Soleimani Samarkhazan   +5 more
wiley   +1 more source

A novel 3-base deletion (IVS3+2_4delTGG) of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyria

open access: yesGenetics and Molecular Biology, 2007
Acute intermittent porphyria (AIP, OMIM 176000) is an autosomal dominant metabolic disease caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS; EC 4.3.1.8; formely named porphobilinogen deaminase, PBGD), mapped to chromosome 11q23.
Georgina Severo Ribeiro   +8 more
doaj   +1 more source

Rare Coexistence of Acute Intermittent Porphyria With Systemic Lupus Erythematous: Case Report and Literature Review

open access: yesJournal of Investigative Medicine High Impact Case Reports, 2023
Porphyrias, particularly acute intermittent porphyria (AIP), are rare, inherited disorders of heme synthesis. On the other hand, systemic lupus erythematosus (SLE) is an uncommon autoimmune disease that affects women predominantly. The coexistence of AIP
Asmaa Yusuf MD   +7 more
doaj   +1 more source

Beyond Methane Oxidation: The Protein Landscape of ANME‐2a Reveals an Integrated System for Diazotrophy and Membrane Fortification

open access: yesEnvironmental Microbiology Reports, Volume 17, Issue 6, December 2025.
A protein interaction network of ANME‐2a uncovers a modular blueprint where core methane oxidation is energetically coupled to nitrogen fixation and membrane lipid biosynthesis. This integrated system explains the archaeon's metabolic autonomy and resilience in its extreme deep‐sea niche.
Samuel de Souza e Silva   +6 more
wiley   +1 more source

Microglial SLC25A28 Knockout Mitigates Spinal Cord Injury in Mice by Inhibiting Heme Synthesis and Subsequent NOX2 Activation

open access: yesCNS Neuroscience &Therapeutics, Volume 31, Issue 11, November 2025.
Microglial SLC25A28 knockout reduces spinal cord injury by inhibiting mitochondrial iron accumulation and heme synthesis, leading to decreased NOX2 activation and neuroinflammation. This study reveals the SLC25A28‐heme‐NOX2 axis as a key regulator of microglial‐driven secondary damage after SCI.
Huangtao Chen   +13 more
wiley   +1 more source

Expression of VPAC1 in a murine model of allergic asthma [PDF]

open access: yes, 2013
Vasoactive intestinal polypeptide (VIP) is a putative neurotransmitter of the inhibitory non-adrenergic non-cholinergic nervous system and influences the mammalian airway function in various ways.
Braun, Armin   +4 more
core  

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