Results 71 to 80 of about 143,066 (307)

Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system

FEBS Letters, EarlyView.
Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley   +1 more source

MPN/MDS OVERLAP SYNDROME ANTICIPATED BY A SEVERE BLEEDING DIATHESIS: HYPOTHESIS OF A PRE-EXISTING PLATELET DISORDER

Mediterranean Journal of Hematology and Infectious Diseases
We report the case of a patient with a conclusive diagnosis of “MDS/MPN” Overlap Syndrome preceded by platelet disorder and hemorrhagic phenotype. We want to induce a reflection about diagnosis of oncohematological disorders in patient with a documented
Paola Ranalli, Stefano Baldoni, Daniela Bruno, Mauro Di Ianni   +3 more
doaj   +1 more source

The Ophthalmological Manifestations of Various Inborn Errors of Metabolism: A Narrative Review

Journal of Pediatrics Review, 2021
Context: Inborn errors of metabolism or Inherited Metabolic Disorders (IMD) are a class of genetic disorders that occur because of single-gene defects. Evidence Acquisition: In this narrative review article, the authors searched Institute for Scientific ...
Abdolreza Medghalchi, Afagh Hassanzadeh Rad, Setila Dalili   +2 more
doaj  

Non-word repetition impairment in autism and specific language impairment: Evidence for distinct underlying neuro-cognitive causes [PDF]

, 2013
Language-impaired individuals with autism perform poorly on tests such as non-word repetition that are sensitive clinical markers of specific language impairment (SLI).
Williams, David M., David Williams, Chloë Marshall, Williams, David, Payne, Heather, Marshall, Chloe, Heather Payne   +6 more
core   +1 more source

Valosin‐containing protein counteracts ATP‐driven dissolution of FUS condensates through its ATPase activity in vitro

FEBS Letters, EarlyView.
Biomolecular condensates formed by fused in sarcoma (FUS) are dissolved by high ATP concentrations yet persist in cells. Using a reconstituted system, we demonstrate that valosin‐containing protein (VCP), an AAA+ ATPase, counteracts ATP‐driven dissolution of FUS condensates through its D2 ATPase activity.
Hitomi Kimura, Shin‐ichi Tate, Kyota Yasuda   +2 more
wiley   +1 more source

Current Understanding of Inherited Modifiers of FVIII Pharmacokinetic Variation

, 2023
Laura L Swystun, David Lillicrap Department of Pathology and Molecular Medicine, Queen’s University, Kingston, ON, CanadaCorrespondence: David Lillicrap, Richardson Laboratory, Queen’s University, 88 Stuart Street, Kingston, Ontario, K7L 3N6, Canada, Tel
Lillicrap D, Swystun LL
core  

Platelet function testing in patients with post-operative tonsillectomy bleeding may be a useful early identifier of inherited platelet function disorders.

, 2020
BACKGROUND Post-tonsillectomy bleeding is the most frequent complication of tonsillectomy. Inherited platelet function disorders have an estimated prevalence of 1 per cent.
Thomson, B J, James, T W, Naumann, D N, Stevenson, D S   +3 more
core   +1 more source

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source

Inherited disorder phenotypes: controlled annotation and statistical analysis for knowledge mining from gene lists [PDF]

, 2005
Background Analysis of inherited diseases and their associated phenotypes is of great importance to gain knowledge of underlying genetic interactions and could ultimately give clinically useful insights into disease processes, including complex diseases
Galati, O, Manzotti, M, Marco Masseroli, Osvaldo Galati, Masseroli, M, Francesco Pinciroli, Mauro Manzotti, Gibert, Karina, Pinciroli, Gibert K F, Karina Gibert   +9 more
core   +2 more sources

Eye involvement in inherited metabolic disorders

Therapeutic Advances in Ophthalmology, 2020
Inherited metabolic disorders are a large group of rare disorders affecting normal biochemical pathways. Many metabolic disorders can present with symptoms affecting the eye, and eye disorders can evolve later in the natural history of an already ...
James E. Davison
doaj   +1 more source