Around 10% of cases of primary hyperparathyroidism are thought to be genetic in origin, some of which are part of a syndromic form such as multiple endocrine neoplasia types 1, 2A or 4 or...
Ann Endocrinol (Paris) - issue: 1 - volume: 86 - pages: 101694.

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.

E3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase...
Am J Hum Genet - issue: 1 - volume: 112 - pages: 75-86.

Multiple endocrine neoplasia (MEN) is a group of rare genetic diseases characterized by the occurrence of multiple tumors of the endocrine system in the same patient. The first MEN described was MEN1,...
Front Endocrinol (Lausanne) - issue: - volume: 15 - pages: 1445633.

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: .

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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.

ABSTRACT: Multiple endocrine neoplasia type 2 (MEN 2) is a rare hereditary endocrine tumor syndrome caused by mutations in the rearranged during transfection (RET) gene. MEN 2 is divided into two main...
Endocr Relat Cancer - issue: 12 - volume: 31 - pages: e240139.

Deficient Anterior pituitary with common Variable Immune Deficiency (DAVID) syndrome results from NFKB2 heterozygous mutations, causing adrenocorticotropic hormone deficiency (ACTHD) and primary...
Elife - issue: - volume: 12 - pages: RP90875.

eLife - issue: - volume: 12 - pages: RP90875.

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.

Eur J Endocrinol - issue: 5 - volume: 191 - pages: C1-C3.

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.