Results 51 to 60 of about 1,611,391 (358)

Recent development and gene therapy for glycogen storage disease type Ia

Liver Research, 2017
Glycogen storage disease type Ia (GSD-Ia) is an autosomal recessive metabolic disorder caused by a deficiency in glucose-6-phosphatase-α (G6Pase-α or G6PC) that is expressed primarily in the liver, kidney, and intestine. G6Pase-α catalyzes the hydrolysis
Janice Y. Chou, Goo-Young Kim, Jun-Ho Cho   +2 more
doaj   +1 more source

Bone Marrow Failure as an Underrecognized Feature of KAT6A Syndrome

Pediatric Blood &Cancer, EarlyView.
ABSTRACT KAT6A syndrome (Arboleda–Tham syndrome) is a rare disorder caused by heterozygous pathogenic variants in KAT6A, a histone acetyltransferase essential for chromatin remodeling and hematopoietic stem cell function. While neurodevelopmental features are well established, hematologic manifestations are underrecognized.
Ye Jee Shim, Bruce Crooks, Hyoung Jin Kang, Kyung Taek Hong, Jung Yoon Choi, Hye Ra Jung, Chang Ahn Seol, Rinu Mathew, Yigal Dror   +8 more
wiley   +1 more source

Psychosocial Outcomes in Patients With Endocrine Tumor Syndromes: A Systematic Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction The combination of disease manifestations, the familial burden, and varying penetrance of endocrine tumor syndromes (ETSs) is unique. This review aimed to portray and summarize available data on psychosocial outcomes in patients with ETSs and explore gaps and opportunities for future research and care.
Daniël Zwerus, Floortje Strobbe, Annemarie A. Verrijn Stuart, Hanneke M. van Santen, Gerlof D. Valk, Sasja A. Schepers, Rachel S. van Leeuwaarde   +6 more
wiley   +1 more source

Nutritional and Behavioral Intervention for Long‐Term Childhood Acute Leukemia Survivors With Metabolic Syndrome

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Metabolic syndrome (MetS) is a common complication in survivors of childhood acute lymphoblastic and myeloid leukemia (AL), and a major risk factor for premature cardiovascular disease, type‐2‐diabetes, and metabolic dysfunction‐associated steatotic liver disease (MASLD).
Visentin Sandrine, Béliard Sophie, Renard Cécile, Caussy Cyrielle, Hamidou Zeinab, Romano David, Gacem Mélanie, Petit Arnaud, Saultier Paul, Borentain Patrick, Michel Gérard   +10 more
wiley   +1 more source

Clinical Correlates of Anxiety and Depression After Diagnosis of a Pediatric Brain Tumor

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background The prevalence and clinical correlates of symptoms of anxiety and depression in pediatric patients with brain tumors are not well described. We aimed to identify clinical characteristics that are correlated with elevated symptoms of anxiety and depression following initial diagnosis.
Bryony J. Lucas, Se‐Kang Kim, Joan Yu, Ana Sofia C. Ibarrola, Heather H. Stancel, Kavyaa Choudry, Mary Elizabeth Moody, Krystal K. Christopher, David R. Grosshans, Arnold C. Paulino, Guillermo Aldave, M. Fatih Okcu, Murali M. Chintagumpala, Austin L. Brown, Michael E. Scheurer, Kimberly P. Raghubar, Lisa S. Kahalley   +16 more
wiley   +1 more source

Lifestyle Behaviors and Cardiotoxic Treatment Risks in Adult Childhood Cancer Survivors

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Higher doses of anthracyclines and heart‐relevant radiotherapy increase cardiovascular disease (CVD) risk. This study assessed CVD and CVD risk factors among adult childhood cancer survivors (CCSs) across cardiotoxic treatment risk groups and examined associations between lifestyle behaviors and treatment risks.
Ruijie Li, Raquel Revuelta Iniesta, Alan R. Barker, Dimitris Vlachopoulos, Tomáš Sláma, Christina Schindera, Fabiën N. Belle   +6 more
wiley   +1 more source

Mapping the evolution of mitochondrial complex I through structural variation

FEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin, Tingting Chen, James A. Letts   +2 more
wiley   +1 more source

Proliferation tracing with single-cell mass cytometry optimizes generation of stem cell memory-like T cells. [PDF]

, 2019
Selective differentiation of naive T cells into multipotent T cells is of great interest clinically for the generation of cell-based cancer immunotherapies. Cellular differentiation depends crucially on division state and time.
Bendall, Sean C, Borges, Luciene, Good, Zinaida, Nolan, Garry P, Sahaf, Bita, Samusik, Nikolay, Tibshirani, Robert, Vivanco Gonzalez, Nora   +7 more
core  

Differential growth of wrinkled biofilms [PDF]

, 2015
Biofilms are antibiotic-resistant bacterial aggregates that grow on moist surfaces and can trigger hospital-acquired infections. They provide a classical example in biology where the dynamics of cellular communities may be observed and studied.
Carpio, A., Einarsson, B., Espeso, D. R.
core   +3 more sources

Retinoblastoma Protein Paralogs and Tumor Suppression

Frontiers in Genetics, 2022
The retinoblastoma susceptibility gene (RB1) is the first tumor suppressor gene discovered and a prototype for understanding regulatory networks that function in opposition to oncogenic stimuli.
Mauricio Flores, David W. Goodrich
doaj   +1 more source