Results 41 to 50 of about 1,177,821 (205)

The role of mitochondria in the renal Fanconi syndrome [PDF]

, 2010
Clinically, the renal proximal tubule (PT) seems to be vulnerable to mitochondrial dysfunction (MD), which can affect normal transport processes (including reabsorption of low molecular weight proteins [LMWPs]), resulting in the renal Fanconi syndrome.
Hall, A.
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Red lines and green lights: Gene therapy for inherited erythroid disorders beyond the haemoglobinopathies

British Journal of Haematology, EarlyView.
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

ICSH Guidance on Bone Marrow Examination and Reporting

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Examination of the bone marrow (BM) remains fundamental to the diagnosis, classification, prognostication, and monitoring of hematolymphoid and other disorders affecting blood cell production. Since publication of the International Council for Standardization in Haematology (ICSH) guideline in 2008, advances in diagnostic technologies, disease
Wendy N. Erber, Alexandar Tzankov, Olga Pozdnyakova, Hiromichi Matsushita, Gina Zini, Leonie Saft, on behalf of the International Council for Standardization in Haematology   +6 more
wiley   +1 more source

The fanconi anemia DNA repair pathway is regulated by an interaction between ubiquitin and the E2-like fold domain of FANCL [PDF]

, 2015
The Fanconi Anemia (FA) DNA repair pathway is essential for the recognition and repair of DNA interstrand crosslinks (ICL). Inefficient repair of these ICL can lead to leukemia and bone marrow failure.
Howard, Mark J., Sidhu, Ateesh, Chaugule, Viduth K., Alpi, Arno F., Miles, Jennifer A., Carroll, Eilis, Frost, Mark G., Rowe, Michelle L., Walden, Helen   +8 more
core   +1 more source

Hypophosphataemia in adults: approach to diagnosis and management

Internal Medicine Journal, EarlyView.
Abstract Hypophosphataemia is a common electrolyte disorder which can have clinically significant consequences for bone, muscle, neurological and haematological function. Its causes range from transient transcellular shifts in hospitalised patients to chronic renal phosphate‐wasting disorders mediated by fibroblast growth factor 23 (FGF23).
Kajanan Parameshwaran, Mawson Wang, Kirtan Ganda   +2 more
wiley   +1 more source

Oral Lichenoid Lesions in Patients With Dyskeratosis Congenita: A Retrospective Case Series

Oral Diseases, EarlyView.
ABSTRACT Background Dyskeratosis congenita (DKC) is a rare inherited multisystem disorder primarily affecting the mucocutaneous and hematopoietic systems. Classically, it presents with the ectodermal triad of reticulate skin pigmentation, nail dystrophy, and oral leukoplakia.
Yehuda Zadik, Ori Finfter, Tevel Amiel, Amina Massarwa, Refael Cohen, Jawad Abu Tair, Anna Novikov, Polina Stepensky, Irina Zaidman, Ehud Even‐Or   +9 more
wiley   +1 more source

Survival After Hematopoietic Stem Cell Transplantation in Diamond–Blackfan Anemia Syndrome: The Role of Iron Overload—A Systematic Review

Pediatric Blood &Cancer, Volume 73, Issue 11, November 2026.
ABSTRACT We assessed the effect of iron overload (IO) on mortality and complications following hematopoietic stem cell transplantation (HSCT) in patients with Diamond–Blackfan anemia syndrome (DBAS) in a systematic review of individual participant data and cohort data from observational studies.
Geoffrey Z. L. Kuppens, Evangelia Kiakou, Lieke de Zwart, Maurizio Miano, Eduard J. van Beers, Marc Bierings, Marije Bartels   +6 more
wiley   +1 more source

Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman

JIMD Reports, 2023
Lysinuric protein intolerance (LPI), caused by pathogenic variants of SLC7A7, is characterized by protein aversion, failure to thrive, hyperammonemia, and hepatomegaly.
Hiroaki Hanafusa, Katsuya Nakamura, Yuji Kamijo, Masashi Kitahara, Takashi Ehara, Tsuneaki Yoshinaga, Kaoru Aoki, Nagaaki Katoh, Tomomi Yamaguchi, Tomoki Kosho, Yoshiki Sekijima   +10 more
doaj   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2331-2337, October 2026.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Irreversible repression of DNA synthesis in Fanconi anemia cells is alleviated by the product of a novel cyclin-related gene [PDF]

, 1995
Primary fibroblasts from patients with the genetic disease Fanconi anemia, which are hypersensitive to cross-linking agents, were used to screen a cDNA library for sequences involved in their abnormal cellular response to a cross-linking challenge.
Digweed, M., Günthert, U., Schneider, R., Friedl, R., Sperling, K., Seyschab, H.   +5 more
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