Results 121 to 130 of about 1,474,438 (314)

Bone marrow transplantation increases sulfatase activity in somatic tissues in a multiple sulfatase deficiency mouse model

Communications Medicine
Background Multiple Sulfatase Deficiency (MSD) is an ultra-rare autosomal recessive disorder characterized by deficient enzymatic activity of all known sulfatases. MSD patients frequently carry two loss of function mutations in the SUMF1 gene, encoding a
Maximiliano Presa, Vi Pham, Somdatta Ray, Pierre-Alexandre Piec, Jennifer Ryan, Timothy Billings, Harold Coombs, Lars Schlotawa, Troy Lund, Rebecca C. Ahrens-Nicklas, Cathleen Lutz   +10 more
doaj   +1 more source

Collection of Reviewed Resources and Tools for Rare Disease Variant Interpretation

<p><strong>Classification of the Rare Disease Resources and Tools<br></strong>The Rare Disease resources and tools for annotating pathogenic variants, primarily sourced from the <em>bio.tools </em>registry, have been ...
RD Service Collection 1 - Assessing Molecular Pathogenicity for Rare Disease (AMP4RD)
core   +2 more sources

Natural Products as Geroprotective Modulators in Diabetic Nephropathy: A Mechanistic Framework Integrating Aging Hallmarks and the AMPK–SIRT1–Nrf2 Axis

Aging and Cancer, EarlyView.
Natural products target the aging kidney in diabetic nephropathy by restoring the AMPK–SIRT1–Nrf2 axis, reducing oxidative stress, inflammation, fibrosis, and cellular senescence while enhancing mitochondrial biogenesis and antioxidant defenses.
Sherif Hamidu, Latif Adams, Eunice Ampem‐Danso, Justice Kumi, Abigail Aning, Fatima Hamidu, Mustapha Abdul Mumin Mohammed, Ayuba Nii Darku Ankrah, Seth Kwabena Amponsah   +8 more
wiley   +1 more source

Risk of Cardiac Arrhythmias in Patients with Late-Onset Pompe Disease—Results from a Long Follow-Up in a Group of 12 Patients and Review of Literature

Background. Pompe disease is a rare, severe, autosomal recessive genetic disorder caused by GAA gene mutations, which cause α-1,4-glucosidase enzyme deficiency.
Luisa Politano, Alberto Palladino, Marianna Scutifero, Esther Picillo, Luigia Passamano, Gerardo Nigro, Andrea Antonio Papa, Salvatore Morra   +7 more
core   +1 more source

Dental Perspective of Rare Disease of Fanconi Anemia: Case Report with Review

, 2016
Fanconi anemia is an extremely rare genetic disease characterized by chromosomal instability that induces congenital alterations in individuals. It causes defective hemopoiesis ultimately leading to bone marrow failure.
Mridula Goswami, Manoj Goswami, Urvashi Bhushan   +2 more
core   +1 more source

Re‐Awakening Public Attention to the Silent Pandemic of Cancer Among Older Adults in Low‐ and Middle‐Income Countries

Aging and Cancer, EarlyView.
ABSTRACT As global populations age, cancer is increasingly becoming a leading cause of morbidity and mortality among older adults, particularly in low‐ and middle‐income countries (LMICs). Despite accounting for the majority of new cancer cases and deaths, older individuals remain underrepresented in cancer research, clinical guidelines, and health ...
Ibrahim Bidemi Abdullateef, Sunkanmi Folorunsho, Abdulazeez Opeyemi Abdulganiyu   +2 more
wiley   +1 more source

The importance of psychological support for parents and caregivers of children with a rare disease at diagnosis

, 2022
Rare diseases are complex and difficult to diagnose, with parents and caregivers often reporting significant delays in receiving a definitive diagnosis.
Henley, Susie M. D., Woodman, Deborah, Kenny, Thomas, Walton, Jill, Bogart, Kathleen, Garthwaite, Claire, Freedman, Albert, Winter, Kym, Mohammed, Shehla, Bolz-Johnson, Matt   +9 more
core  

Aging Is a Key Driver for Adult Acute Myeloid Leukemia

Aging and Cancer, EarlyView.
Acute myeloid leukemia (AML) is a classical age‐related hematologic malignancy, and a key driver of AML is aging, which profoundly regulates intrinsic factors such as genomic instability, epigenetic reprogramming, and metabolic dysregulation, and alters bone marrow microenvironment.
Rong Yin, Haojian Zhang
wiley   +1 more source

Immunological Targets in Generalized Myasthenia Gravis Treatment: Where Are We Going Now?

Brain Sciences
Background: Generalized myasthenia gravis (gMG) is a heterogeneous autoimmune disorder marked by antibody-mediated disruption of neuromuscular transmission.
Elena Rossini, Luca Leonardi, Stefania Morino, Giovanni Antonini, Laura Fionda   +4 more
doaj   +1 more source

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source