Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium...
Orphanet J Rare Dis - issue: 1 - volume: 19 - pages: 357.

Abstract Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) is the leading cause of childhood chronic kidney failure and a significant cause of chronic kidney disease in adults....
Sci Rep - issue: 1 - volume: 14 - pages: 20731.

Skeletal muscles of the head and trunk originate in distinct lineages with divergent regulatory programmes converging on activation of myogenic determination factors. Branchiomeric head and neck...
Development - issue: 16 - volume: 151 - pages: dev202905.

The gold standard for facioscapulohumeral muscular dystrophy (FSHD) genetic diagnostic procedures was published in 2012. With the increasing complexity of the genetics of FSHD1 and 2, the increase of...
Clin Genet - issue: 1 - volume: 06 - pages: 13-26.

Background: Dilated cardiomyopathy (DCM) is characterized by dilatation of the left ventricle, systolic dysfunction, and normal or reduced thickness of the left ventricular wall. It is a leading cause...
Mol Genet Genomic Med - issue: - volume: 6 - pages: e2486.

Biomechanical forces, and their molecular transducers, including key mechanosensitive transcription factor genes, such as KLF2, are required for cardiac valve morphogenesis. However, klf2 mutants fail...
Sci Adv - issue: 10 - volume: 20 - pages: eadl0633.

Background and aims: Presentation, outcome, and management of females with degenerative mitral regurgitation (DMR) are undefined. We analysed sex-specific baseline clinical and echocardiographic...
Eur Heart J - issue: - volume: - pages: ehae265.

Abstract Muscular dystrophies (MDs) are inherited genetic diseases causing weakness and degeneration of muscles. The distribution of muscle weakness differs between MDs, involving distal...
Sci Rep - issue: 1 - volume: 14 - pages: 11225.

Environmental factors are external conditions that can affect the health of living organisms. For a number of rare genetic diseases, an interplay between genetic and environmental factors is known or...
SoftwareX - issue: - volume: 26 - pages: 101701.

OBJECTIVE: YWHAG variant alleles have been associated with a rare disease trait whose clinical synopsis includes an early onset epileptic encephalopathy with predominantly myoclonic seizures,...
Epilepsia - issue: 5 - volume: 65 - pages: 1439-1450.

Due to their biocompatibility and biodegradability and their unique structural and physicochemical properties, laser-synthesized silicon nanoparticles (Si-NPs) are one of the nanomaterials which have...
Nanoscale Adv - issue: 8 - volume: 6 - pages: 2104-2112..

Intellectual Disability (ID) is the major cause of handicap, affecting nearly 3% of the general population, and is highly genetically heterogenous with more than a thousand genes involved. Exome...
Hum Mol Genet - issue: 6 - volume: 33 - pages: 520-529.

Summary: Network biology is an interdisciplinary field bridging computational and biological sciences that has proved pivotal in advancing the understanding of cellular functions and diseases across...
- issue: 1 - volume: 4 - pages: vbae099.

Neuromuscular disorders (NMDs) are a large group of diseases associated with either alterations of skeletal muscle fibers, motor neurons or neuromuscular junctions. Most of these diseases is...
J Neuromuscul Dis - issue: 5 - volume: 10 - pages: 761-776..

Despite their burden, most congenital defects remain poorly understood, due to lack of knowledge of embryological mechanisms. Here, we identify Greb1l mutants as a mouse model of crisscross heart....
Dev Cell - issue: - volume: 23 - pages: 00493-8.

The TRAPP (TRAfficking Protein Particle) complexes are evolutionarily conserved tethering factors involved in the intracellular transport of vesicles for secretion and autophagy processes. Pathogenic...
J Med Genet - issue: 10 - volume: 60 - pages: 1021-1025.

BRAT1 biallelic variants are associated with rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL), and neurodevelopmental disorder associating cerebellar atrophy with or without seizures...
Eur J Hum Genet - issue: 9 - volume: 31 - pages: 1023-1031.

Introduction: An autologous split-thickness skin graft (STSG) is a standard treatment for coverage of full-thickness skin defects. However, this technique has two major drawbacks: the use of general...
Front Bioeng Biotechnol - issue: - volume: 11 - pages: 1217655.

PURPOSE: After childhood leukemia and hematopoietic stem cell transplantation, hormone replacement therapy is often required to induce puberty because of premature ovarian insufficiency. Observance of...
PLoS One - issue: 4 - volume: 18 - pages: e0283940.

Primary aldosteronism can be regulated by the ectopic expression of G-protein coupled receptors in aldosteronomas or bilateral hyperplasias. We report a rare case of a young woman in whom 2...
Front Endocrinol (Lausanne) - issue: - volume: 14 - pages: 1153374.