Results 91 to 100 of about 2,406,008 (205)

« À mains raccourcies » ou l’histoire de l’hémochromatose

UISPP Journal
L’auteur se propose ici de faire le point sur l’histoire de l’hémochromatose, l’une des plus importantes maladies d’origine génétique actuelles. A partir d’exemples récents et de l’étude de deux cas personnels, l’analyse historique de l’hémochromatose ...
Jean Zammit
doaj   +1 more source

Specificity of mRNA binding to proteins within the NMD machinery is influenced in cancer

Frontiers in Molecular Biosciences
IntroductionThe nonsense-mediated mRNA decay (NMD) process is recognized as the quality control of mRNAs to maintain their integrity and production of functional proteins.
Umesh Kalathiya, Monikaben Padariya
doaj   +1 more source

The Cone Dysfunction Syndromes [PDF]

, 2016
The cone dysfunction syndromes are a heterogeneous group of inherited, predominantly stationary retinal disorders characterised by reduced central vision, and varying degrees of colour vision abnormalities, nystagmus and photophobia.
Aboshiha, J, Carroll, J, Dubis, AM, Harcastle, AJ, Michaelides, M   +4 more
core  

RARE DISEASES AND GENETIC DISCRIMINATION [PDF]

, 2011
Rare diseases are characterised by their low prevalence (less than 1/2,000) and their heterogeneity. They affect both children and adults anywhere in the world.
Mariela Yaneva – Deliverska
core  

Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases

Advanced Science
Mitochondria are essential organelles responsible for cellular energy production and diverse metabolic processes. Mitochondrial dysfunction is implicated in a wide range of diseases. Specifically, genetic mitochondrial diseases, arising from mutations in
Parmeshar Singh, Amir Tahavvori, Cyrus E. Kuschner, Blanca B. Espin, Jacob Kazmi, Sofhia V. Ramos, Tai Yin, Kei Hayashida, Kanako Ito‐Hagiwara, Yusuke Endo, Keitaro Yoshioka, Jun Hagiwara, Avijot Sohi, Alisha Oropallo, Ghania Haddad, Timmy Li, Lance B. Becker, Junhwan Kim   +17 more
doaj   +1 more source

Clinical Spectrum, Diagnosis, and Management of TANGO2 Deficiency Disorder: A Comprehensive Review

Quality in Sport
TANGO2 deficiency disorder is an autosomal recessive disease caused by biallelic pathogenic variants in the TANGO2 gene. First described in 2016, the disorder is characterized by acute metabolic crises, neurological dysfunctions, developmental delays ...
Marcin Dołęga, Piotr Gacka, Olgierd Dróżdż, Joanna Gołda, Julia Mężyk, Aleksandra Snopkowska   +5 more
doaj   +1 more source

Metabolic cardiomyopathies: untangling clinical heterogeneity with human stem-cell derived models

EMBO Molecular Medicine
Inherited metabolic diseases are rare monogenic conditions that disrupt biochemical pathways, affecting energy production and homeostasis, often leading to damaging metabolite accumulation.
Adriana S Passadouro, Berith M Balfoort, Mirjam Langeveld, Clara D M van Karnebeek, Jolanda van der Velden, Riekelt H Houtkooper, Signe Mosegaard   +6 more
doaj   +1 more source

Novel eRF3a degrader enhances gentamicin-induced premature termination codon readthrough in epidermolysis bullosa

Molecular Therapy: Nucleic Acids
Recessive dystrophic epidermolysis bullosa (RDEB) and junctional epidermolysis bullosa (JEB) are severe blistering skin disorders caused by mutations in genes encoding type VII collagen (COL7A1) and laminin 332 (LAMA3, LAMB3, or LAMC2), respectively.
Kathleen L. Miao, Brandon Levian, Yingping Hou, Ryan Huynh, Kate Zheng, Mei Chen   +5 more
doaj   +1 more source

Editorial: Noncanonical functions of Aminoacyl-tRNA synthetases

Frontiers in Physiology, 2023
Litao Sun, Xiao-Long Zhou, Zhong-Wei Zhou, Haissi Cui   +3 more
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Clinical pharmacology and tolerability of REC‐994, a redox‐cycling nitroxide compound, in randomized phase 1 dose‐finding studies

Pharmacology Research & Perspectives
Cerebral cavernous malformation (CCM) has variable clinical symptoms, including potentially fatal hemorrhagic stroke. Treatment options are very limited, presenting a large unmet need.
Ron Alfa, Timothy Considine, Shafique Virani, Matt Pfeiffer, Anthony Donato, Daniel Dickerson, Diana Shuster, Joel Ellis, Kristen Rushton, Helen Wei, Christopher Gibson   +10 more
doaj   +1 more source