Forty first-trimester human hearts were studied to lay groundwork for further studies of principles underlying congenital heart defects. We first sampled 49,227 cardiac nuclei from three fetuses at...
Development - issue: 152 - volume: 5 - pages: DEV204555.

Background Inclusion Body Myositis is an acquired muscle disease. Its pathogenesis is unclear due to the co-existence of inflammation, muscle degeneration and mitochondrial dysfunction. We aimed to...
Orphanet J Rare Dis - issue: 1 - volume: 20 - pages: 27.

Sci Rep - issue: 1 - volume: 15 - pages: 1412.

Anterior Hox genes are required for genetic identity and anterior posterior patterning of the second heart field (SHF), which contributes to the formation of the embryonic heart in vertebrates....
Methods Mol Biol - issue: - volume: 2889 - pages: 121-137.

Background:  Biological networks have proven invaluable ability for representing biological knowledge. Multilayer networks, which gather different types of nodes and edges in multiplex, heterogeneous...
BMC Bioinformatics - issue: - volume: - pages: .

- issue: - volume: - pages: .

The molecular diagnosis of type 1 facioscapulohumeral muscular dystrophy (FSHD1) relies on the detection of a shortened D4Z4 array at the 4q35 locus. Until recently, the diagnosis of FSHD2 relied...
Eur J Hum Genet - issue: - volume: - pages: Online ahead of print.

Herpes simplex virus 1 (HSV-1) latently infected neurons display diverse patterns in the distribution of the viral genomes within the nucleus. A key pattern involves quiescent HSV-1 genomes...
Proc Natl Acad Sci USA - issue: 49 - volume: 129 - pages: e2412258121.

Cardiopharyngeal mesoderm contributes to the formation of the heart and head muscles. However, the mechanisms governing cardiopharyngeal mesoderm specification remain unclear. Here, we reproduce...
Nat Commun - issue: 1 - volume: 15 - pages: 10172.

Abstract Cardiopharyngeal mesoderm contributes to the formation of the heart and head muscles. However, the mechanisms governing cardiopharyngeal mesoderm specification remain unclear....
Nat Commun - issue: 1 - volume: 15 - pages: 10172.

Introduction: Circulating cell-free DNA (cfDNA) is emerging as a non-invasive biomarker in solid organ transplantation (SOT) monitoring and data on its diagnostic potential have been increasing in...
Front Transplant - issue: - volume: - pages: eCollection 2024.

Congenital heart defects (CHDs), the most common congenital anomalies, are considered to have a significant genetic component. However, despite considerable efforts to identify pathogenic genes in...
Dis Model Mech - issue: 11 - volume: 17 - pages: dmm050913.

Background: Approximately half of hypertrophic cardiomyopathy (HCM) patients lack a precise genetic diagnosis. The likelihood of identifying clinically relevant variants increased over time. ...
Front Med - issue: - volume: 11 - pages: 1480947.

Rubinstein-Taybi syndrome (RTS) is a rare and severe genetic developmental disorder characterized by multiple congenital anomalies and intellectual disability. CREBBP and EP300, the two genes known to...
Commun Biol - issue: 1 - volume: 7 - pages: 1331.

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.