Results 91 to 100 of about 2,262,684 (231)
Pediatric Blood &Cancer, Volume 72, Issue 12, December 2025.ABSTRACT Background Pediatric patients with inherited or acquired bone marrow failure syndromes (BMFS) often require an allogeneic hematopoietic stem cell transplant (HSCT) to cure the hematological manifestations. Amongst these, those without a matched sibling donor (MSD), are at increased risk for graft failure and are known to tolerate graft‐versus ...
Zahra Hudda +7 more
wiley +1 more source
Clinics in Orthopedic Surgery, 2016 In Fanconi syndrome, hypophosphatemic osteomalacia is caused by proximal renal tubule dysfunction which leads to impaired reabsorption of amino acids, glucose, urate, and phosphate.
Yoon-Suk Lee +3 more
semanticscholar +1 more source
Recursive Partitioning to Differentiate Acquired From Inherited Bone Marrow Failure Syndromes
American Journal of Hematology, Volume 100, Issue 11, Page 1983-1992, November 2025.ABSTRACT Distinguishing inherited bone marrow failure (IBMF) from acquired aplastic anemia (aAA) at diagnosis is a major clinical challenge and is essential for appropriate treatment and patients' counseling. Genetic testing to exclude IBMF is frequently subject to delays of several months and may not be available in all centers and could not be ...
Eléonore Kaphan +16 more
wiley +1 more source
Acquired Bartter Syndrome in Primary Sjögren Syndrome
Saudi Journal of Kidney Diseases and Transplantation, 2020 Renal tubular involvement in Sjögren's syndrome (SS) often described with renal tubular acidosis, nephrogenic diabetes insipidus, or rarely with Fanconi syndrome.
Aya Fraj +6 more
doaj +1 more source
Drug-induced renal Fanconi syndrome [PDF]
, 2016 A number of therapeutic drugs are toxic to the kidney proximal tubule (PT) and can cause the renal Fanconi syndrome (FS). The most frequently implicated drugs are cisplatin, ifosfamide, tenofovir, sodium valproate and aminoglycoside antibiotics, and the ...
Bass, P., Hall, A.M., Unwin, R.J.
core
Alimentary Pharmacology &Therapeutics, Volume 62, Issue 9, Page 939-943, November 2025.Clinically relevant endoscopic findings in asymptomatic Fanconi Anemia patients. ABSTRACT Fanconi anaemia (FA), a rare genetic disorder of DNA repair, predisposes to squamous cell carcinomas of head, neck and oesophagus. We assessed the value of screening esophagogastroduodenoscopy (EGD) in 20 asymptomatic adults (median age 23.5, 65% female) with FA ...
Joshua A. Sloan +7 more
wiley +1 more source
Metastatic Group 3 Medulloblastoma in a Patient With Tuberous Sclerosis Complex: Case Description and Molecular Characterization of the Tumor [PDF]
, 2015 Medulloblastoma is the most common pediatric brain tumor. We describe a child with tuberous sclerosis complex that developed a Group 3, myc overexpressed, metastatic medulloblastoma (MB).
Carai, Andrea +14 more
core +1 more source
Cell Proliferation, Volume 58, Issue 11, November 2025.CRISPR‐Cas systems offer transformative genome editing capabilities for precise manipulation of cellular genes. This enables two main therapeutic avenues: ex vivo modification of patient cells for re‐transplantation or direct in vivo gene targeting via advanced delivery methods.
Bahareh Farasati Far +4 more
wiley +1 more source
Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome [PDF]
, 2016 Isomorphic mutation of the SBDS gene causes Shwachman-Diamond syndrome (SDS). SDS is a rare genetic bone marrow failure and cancer predisposition syndrome.
Bottega, Roberta +12 more
core +3 more sources
Advanced Science, Volume 12, Issue 40, October 27, 2025.This study demonstrated that ATG4B translocates from the cytoplasm to the nucleus during energy deficiency. Nuclear ATG4B inhibits DNA repair by interacting with PRMT1. The nuclear ATG4B‐mediated DNA repair defect is significantly exacerbated within acute myeloid leukemia (AML) cells, promoting leukemia progression in an AML mouse model.
Zhenkun Wang +20 more
wiley +1 more source