Results 71 to 80 of about 288,483 (243)

Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder

Frontiers in Pediatrics, 2023
The TRNT1 gene encodes tRNA nucleotidyltransferase 1, which catalyzes the addition of cytosine-cytosine-adenosine (CCA) to the ends of cytoplasmic and mitochondrial tRNAs.
Cui-Jie Wei, Yi-Dan Liu, Yan-Ling Yang, Yuan Wu, Jie-Yu Liu, Xing-Zhi Chang, Ying Hua, Yu-He Liu, Hui Xiong   +8 more
doaj   +1 more source

TRNT1 deficiency: clinical, biochemical and molecular genetic features [PDF]

, 2016
BACKGROUND: TRNT1 (CCA-adding transfer RNA nucleotidyl transferase) enzyme deficiency is a new metabolic disease caused by defective post-transcriptional modification of mitochondrial and cytosolic transfer RNAs (tRNAs).
Chong, WK, Clayton, PT, Fassone, E, Footitt, E, Kleta, R, Mills, PB, Minczuk, M, Niazi, R, Pearce, S, Plagnol, V, Powell, CA, Rahman, S, Saldanha, JW, Taanman, JW, Wedatilake, Y   +14 more
core   +2 more sources

X‐Linked Sideroblastic Anaemia Caused by Intronic ALAS2 Variant Resulting in Highly Variable Expressive Phenotype in Male Siblings, a Case Report

eJHaem, Volume 6, Issue 3, June 2025.
ABSTRACT X‐linked sideroblastic anaemia (XLSA) is a rare hereditary disorder caused by mutations in the ALAS2 gene, essential for haem biosynthesis. We report two male siblings, the first of whom developed severe microcytic hypochromic anaemia requiring regular transfusions, iron chelation and an allogeneic bone marrow transplant, while his brother ...
James O'Connor, Niall Mannion, Caoimhe McKenna, Kerrie Sweeney, Aaron Niblock   +4 more
wiley   +1 more source

The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts. [PDF]

PLoS ONE, 2008
Refractory Anemia with Ring Sideroblasts (RARS) is an acquired myelodysplastic syndrome (MDS) characterized by an excess iron accumulation in the mitochondria of erythroblasts.
Jacqueline Boultwood, Andrea Pellagatti, Maryam Nikpour, Beena Pushkaran, Carrie Fidler, Helen Cattan, Tim J Littlewood, Luca Malcovati, Matteo G Della Porta, Martin Jädersten, Sally Killick, Aristoteles Giagounidis, David Bowen, Eva Hellström-Lindberg, Mario Cazzola, James S Wainscoat   +15 more
doaj   +1 more source

HSCB, a co-chaperone in mitochondrial iron-sulfur cluster biogenesis, is a novel candidate gene for congenital sideroblastic anemia [PDF]

, 2017
Congenital sideroblastic anemias (CSA) are inherited diseases resulting from defects in heme biosynthesis, mitochondrial iron-sulfur cluster (ISC) assembly, or mitochondrial translation.
Crispin, Andrew
core  

An X‐Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene

Movement Disorders, Volume 40, Issue 4, Page 672-682, April 2025.
Abstract Objective Pathogenic variants in B‐cell receptor‐associated protein (BCAP31) are associated with X‐linked, deafness, dystonia and cerebral hypomyelination (DDCH) syndrome. DDCH is congenital and non‐progressive, featuring severe intellectual disability (ID), variable dysmorphism, and sometimes associated with shortened survival. BCAP31 encodes
Martin Paucar, Tianyi Li, Åsa Bergendal, Irina Savitcheva, Kaveh Pourhamidi, José M. Laffita‐Mesa, Ann Nordgren, Martin Engvall, Per Uhlén, Kristina Lagerstedt‐Robinson, Per Svenningsson   +10 more
wiley   +1 more source

Case Report: Clinical and Hematological Characteristics of εγδβ Thalassemia in an Italian Patient

Frontiers in Pediatrics, 2022
Introductionεγδβ thalassemia is a rare form of β-thalassemia mostly described in children originating from Northern Europe. Only anecdotic cases from the Mediterranean area are reported. The diagnosis is challenging, considering the rarity of the disease
Ilaria Fotzi, Francesco Pegoraro, Francesco Pegoraro, Elena Chiocca, Tommaso Casini, Massimo Mogni, Marinella Veltroni, Claudio Favre   +7 more
doaj   +1 more source

Prospective Study to Assess Long‐Term Outcomes of Chelator‐Based Treatment With Trientine Dihydrochloride in Patients With Wilson Disease

JGH Open, Volume 9, Issue 3, March 2025.
ABSTRACT Background and Aims Wilson disease is an inherited disorder of copper metabolism affecting mainly the liver and brain. Trientine dihydrochloride (TETA‐2HCl) is approved for the treatment of Wilson disease in patients (≥ 5 years) intolerant to D‐penicillamine therapy.
Isabelle Mohr, Carlot Kruse, Verena Aliane, Karl Heinz Weiss   +3 more
wiley   +1 more source

Ringed sideroblasts in βâ thalassemia [PDF]

, 2016
Symptomatic βâ thalassemia is one of the globally most common inherited disorders. The initial clinical presentation is variable. Although common hematological analyses are typically sufficient to diagnose the disease, sometimes the diagnosis can be ...
Campagna, Dean R., Caruso Brown, Amy E., Cattivelli, Kim, Fleming, Mark D., Heeney, Matthew M., Kearney, Susan, Markianos, Kyriacos, Neufeld, Ellis J., Schmitz‐abe, Klaus, Walkovich, Kelly, Yaish, Hassan M.   +10 more
core   +1 more source

Application of Nanomaterials in the Repair and Regeneration of Lymphatic Organs and Corresponding Biophysical Simulation Strategies

Advanced NanoBiomed Research, Volume 5, Issue 2, February 2025.
Immune system diseases, tumors, and injuries can damage lymphoid organs and impair immune function. Treatments like chemotherapy and radiotherapy exacerbate these issues, leading to dysfunction and increased infection risk. Nanotechnology plays a crucial role in regenerating lymphoid organs and restoring immune function through targeted drug delivery ...
Bangheng Liu, Dong‐An Wang
wiley   +1 more source