Results 81 to 90 of about 5,571 (225)

An update on autophagy disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Macroautophagy is a highly conserved cellular pathway for the degradation and recycling of defective cargo including proteins, organelles, and macromolecular complexes. As autophagy is particularly relevant for cellular homeostasis in post‐mitotic tissues, congenital disorders of autophagy, due to monogenic defects in key autophagy genes ...
Hormos Salimi Dafsari, Diego Martinelli, Afshin Saffari, Darius Ebrahimi‐Fakhari, Manolis Fanto, Carlo Dionisi‐Vici, Heinz Jungbluth   +6 more
wiley   +1 more source

Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection

Molecular Genetics &Genomic Medicine, Volume 13, Issue 1, January 2025.
ABSTRACT Background Skeletal dysplasia (SD) represents a series of highly heterogeneous congenital genetic diseases affecting the human skeletal system. Refined genetic diagnosis is helpful for the accurate diagnosis and prognosis evaluation of SDs.
Li‐min Cui, Hua‐ying Hu, Xiao‐mei Zhai, Ming‐fei Qi, Yan‐ming Liu, Cong‐ying Han, Jing Zhang, Ming Shen, Yu‐lan Xiang, Wen‐qi Chen, Kai Yang, Dong‐liang Zhang, Huan‐xia Xing   +12 more
wiley   +1 more source

Meretoja's Syndrome: Lattice Corneal Dystrophy, Gelsolin Type [PDF]

, 2017
Lattice corneal dystrophy gelsolin type was first described in 1969 by Jouko Meretoja, a Finnish ophthalmologist. It is caused by an autosomal dominant mutation in gelsolin gene resulting in unstable protein fragments and amyloid deposition in various ...
Abreu, C., Beirão, João, Casal, I., Monteiro, S., Neves, M., Oliveira, L.   +5 more
core   +3 more sources

Chromosome 1p31.1 Deletion: A Case With Developmental Delay, Hypotonia, Cryptorchidism, Abnormal Oral Frenulum, and Feet Deformity

Case Reports in Genetics, Volume 2025, Issue 1, 2025.
Deletions within the chromosomal locus 1p31.1 are rare, with only a limited number of documented cases. The typical clinical presentation includes intellectual disability, failure to thrive, and craniofacial abnormalities. Some cases may also present with cardiac, gastrointestinal, and genitourinary malformations.
Tatiana Mikhailova, Ria Garg, Irfan Ahmad   +2 more
wiley   +1 more source

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

The Molecular Landscape of Premature Aging Diseases Defined by Multilayer Network Exploration

Advanced Biology, Volume 8, Issue 11, November 2024.
Premature Aging (PA) diseases are rare genetic disorders mimicking physiological aging at a young age. Identified causative genes reveal genetic heterogeneity and gaps in understanding PA mechanisms. A network exploration strategy to systematically uncover communities associated with more than 60 PA diseases is implemented.
Cécile Beust, Alberto Valdeolivas, Anthony Baptista, Galadriel Brière, Nicolas Lévy, Ozan Ozisik, Anaïs Baudot   +6 more
wiley   +1 more source

Incomplete cleft palate in a child with De Barsy syndrome

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2018
De Barsy syndrome, a rare genetic disorder, is characterized by progeroid features, cutis laxa, ocular abnormalities, growth retardation, and intellectual disability.
Devi Prasad Mohapatra, Sireesha Reddy Konda, Preethitha Babu   +2 more
doaj   +1 more source

Washington University Record, April 28, 2006 [PDF]

, 2006
https://digitalcommons.wustl.edu/record/2071/thumbnail ...

core   +1 more source

گزارش 1 مورد Cutis Laxa همراه با دررفتگی دو طرفه مفصل ران [PDF]

, 2002
کوتيس لاکسا يک بيماری ارثی است که از 2 طريق اتوزومال غالب و مغلوب منتقل می‌شود. شکل اکتسابی اين بيماری به دنبال يک بيماری تب‌دار يا التهاب پوستی ايجاد می‌شود.
عبدی, علی اکبر
core  

Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects

, 2020
Arterial tortuosity syndrome (ATS) is a recessively inherited connective tissue disorder, mainly characterized by tortuosity and aneurysm formation of the major arteries.
Barnhoorn, Sander, Beyens, Aude, Boel, Annekatrien, Burger, Joyce, Callewaert, Bert, Casteleyn, Christophe, Coucke, Paul, Descamps, Benedicte, Essers, Jeroen, Reinhardt, Dieter, Renard, Marjolijn, van der Pluijm, Ingrid, Vanhomwegen, Marine, Vanhove, Christian, Willaert, Andy   +14 more
core   +1 more source