Results 51 to 60 of about 1,366 (166)

X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation.

Journal of Clinical Investigation, 2020
Macrocytic anemia with abnormal erythropoiesis is a common feature of megaloblastic anemias, congenital dyserythropoietic anemias, and myelodysplastic syndromes. Here, we characterized a family with multiple female individuals who have macrocytic anemia.
V. Sankaran, Jacob C. Ulirsch, Vassili Tchaikovskii, Leif S. Ludwig, Aoi Wakabayashi, S. Kadirvel, R. C. Lindsley, R. Bejar, Jia-Hai Shi, Scott B. Lovitch, D. F. Bishop, D. Steensma   +11 more
semanticscholar   +1 more source

Antipsychotics‐Induced Hyposalivation Mediated by Impaired Salivary Ca2+ Signaling

Oral Diseases, EarlyView.
ABSTRACT Objectives Antipsychotic‐induced salivary dysfunction such as hyposalivation is a prevalent clinical challenge that severely compromises oral health and quality of life. Although typical and atypical antipsychotics have their therapeutic target in the central nervous system, their direct molecular mechanisms within the salivary glands remain ...
Chaelin Chung, Soohyun Kim, Yoo‐Bin Kim, Hee‐Kyung Park, Se‐Young Choi   +4 more
wiley   +1 more source

Supplementary figure 1: Monitoring of hemoglobin and erythropoiesis-related mRNA with dried-blood spots in athletes and patients

, 2022
Patient 3 biological passport and Expression levels of both ALAS2 LC and ALAS2 L mRNA and the mean of these expression levels in patients 1 ...
Angela Rocca (12099974), Menno Pruijm (541636), Nicolas Leuenberger (424759), Francesco Loria (12099968), Tiia Kuuranne (11565864), Silke Grabherr (7750880), Andreas P Stutz (12099971)   +6 more
core   +1 more source

The impact of different stain carriers on the mrna profiling from bloodstains

Journal of Forensic Science and Medicine, 2022
Unlike DNA profiling, mRNA profiling is greatly affected by external factors. To analyze the influence of different stain carriers on the detectability of mRNA markers from bloodstains, this study examined 10 carriers, including a knife, cotton swab ...
Hemiao Zhao, Qingluan Lin, Qi Zhang, Jing Chen, Zheng Tu, Ruiqin Yang, Lan Hu, Chong Wang   +7 more
doaj   +1 more source

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Nutritional therapy is critical in managing inherited metabolic diseases (IMDs), and includes specialized diets and single nutritional therapy products (sNTPs) such as vitamins, cofactors, and amino acids. Many sNTPs function as medicines, but are regulated as food (e.g., food supplements), which can limit access, reimbursement, and consistent
Nina N. Stolwijk, Bart M. F. Penninx, Annet M. Bosch, Mirjam Langeveld, Gajja S. Salomons, Carla E. M. Hollak, Essential Nutritional Therapy Products for IMDs Consensus Group, Dorothea Möslinger, Saskia Wortmann, David Cassiman, Pavel Ješina, Jiri Zeman, Allan M. Lund, François Feillet, Nazi Tabatadze, Sarah C. Grünert, Anke Schumann, Ute Spiekerkoetter, Ulrike Mütze, Thomas Opladen, Anastasia Skouma, Ina Knerr, Serena Gasperini, Vincenza Gragnaniello, Mariarosa (Marina) Anna Beatrice Melone, Francesca Nardecchia, Alessandro La Rosa, Birutė Tumienė, Margreet Wagenmakers, Terry Derks, Camilla Tøndel, Beata Kieć‐Wilk, Urh Groselj, Amaya Bélanger‐Quintana, Javier De las Heras, Mireia del Toro Riera, Eva Venegas Moreno, Matthias Gautschi, Johannes Häberle, Elaine Murphy   +39 more
wiley   +1 more source

Additional file 1: of Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants

, 2019
Table S1. Oligonucleotides primers (5′ to 3 ‘forward) for mutagenesis and sequencing of ALAS2.
Vassili Tchaikovskii (5845703), David Bishop (287970), Robert Desnick (5767211)   +2 more
core   +1 more source

Comparison between standard hematological parameters and blood doping biomarkers in dried blood spots within the athlete population of Swiss Sport Integrity

Frontiers in Sports and Active Living
IntroductionThe study demonstrated the feasibility of incorporating RNA biomarkers, specifically 5-aminolevulinic acid synthase (ALAS2) and carbonic anhydrase 1 (CA1), to improve the hematological module of the Athlete Biological Passport (ABP) in ...
Jessica Almeida Oliveira, Jessica Almeida Oliveira, Francesco Loria, Francesco Loria, Céline Schobinger, Céline Schobinger, Tiia Kuuranne, Tiia Kuuranne, Claudia Mumenthaler, Nicolas Leuenberger, Nicolas Leuenberger   +10 more
doaj   +1 more source

Red lines and green lights: Gene therapy for inherited erythroid disorders beyond the haemoglobinopathies

British Journal of Haematology, Volume 209, Issue 4, Page 1469-1481, October 2026.
Gene therapy is revolutionizing treatment paradigms for haemoglobinopathies, establishing a translational framework for disorders that impact red blood cell development. In their paper, Joshi et al. describe the preclinical and early clinical landscape of gene therapies for non‐haemoglobinopathy erythroid disorders and highlight common thematic ...
Gaurav Joshi, Nandakumar Natarajan, Kathryn E. Dickerson, Richard A. Voit   +3 more
wiley   +1 more source

Murine ALAS2 protein schematic indicating mutated amino acid residues.

, 2014
The green dotted lines represent the relative locations of the three cysteines in the HRMs of ALAS2. C11 and C38 are in the ALAS2 presequence. K313A, R433K, and the heptavariant mutations and their respective positions are indicated according to the ...
Erica J. Fratz (549421), Gloria C. Ferreira (549423), Gregory A. Hunter (549422)   +2 more
core   +1 more source

Aβ1‐40 induces venular endothelial cell ferroptosis in cerebral amyloid angiopathy via the ATF3/xCT axis: Insights from single‐cell RNA sequencing

Alzheimer's &Dementia, Volume 22, Issue 9, September 2026.
Abstract INTRODUCTION Amyloid‐beta (Aβ)‐induced microvascular injury is a key pathological feature of cerebral amyloid angiopathy (CAA). Recent evidence suggests that ferroptosis is implicated in Aβ pathology; however, its cell‐type specificity and regulatory mechanisms within the cerebral microvasculature in CAA remain unclear. METHODS Single‐cell RNA
Chunmei Wu, Xiaodong Ye, Hualin Chen, Yongkang Fang, Yan Lan, Jiahe Ye, Xin Liu, Ruizhi Xiao, Suiqiang Zhu, Shanshan Huang   +9 more
wiley   +1 more source