Loeys-dietz syndrome
BL Loeys - 1993 - books.google.com
In 2005, Bart Loeys and Harry Dietz described a new syndromic aneurysmal entity. Its
patients were typically characterized by a clinical triad that included hypertelorism (widely …
patients were typically characterized by a clinical triad that included hypertelorism (widely …
Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders
Most people with intellectual disability (ID) do not receive a molecular diagnosis following
genetic testing. To identify new etiologies of ID, we performed a genetic association analysis …
genetic testing. To identify new etiologies of ID, we performed a genetic association analysis …
Update on recommendations for surveillance for children with predisposition to hematopoietic malignancy
LD Maese, MW Wlodarski, SY Kim… - Clinical Cancer …, 2024 - aacrjournals.org
Children harboring certain germline gene variants have an increased risk of develo**
myelodysplastic syndrome (MDS) and other hematopoietic malignancies (HM), such as …
myelodysplastic syndrome (MDS) and other hematopoietic malignancies (HM), such as …
Standardization of definition and management for bleeding disorder of unknown cause: communication from the SSC of the ISTH
In many patients referred with significant bleeding phenotype, laboratory testing fails to
define any hemostatic abnormalities. Clinical practice with respect to diagnosis and …
define any hemostatic abnormalities. Clinical practice with respect to diagnosis and …
Molecular insights into the activation mechanism of GPR156 in maintaining auditory function
The class C orphan G-protein-coupled receptor (GPCR) GPR156, which lacks the large
extracellular region, plays a pivotal role in auditory function through G i2/3. Here, we firstly …
extracellular region, plays a pivotal role in auditory function through G i2/3. Here, we firstly …
Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema
P Brouillard, A Murtomäki, VM Leppänen… - The Journal of clinical …, 2024 - jci.org
Primary lymphedema (PL), characterized by tissue swelling, fat accumulation, and fibrosis,
results from defects in lymphatic vessels or valves caused by mutations in genes involved in …
results from defects in lymphatic vessels or valves caused by mutations in genes involved in …
Constitutive activation mechanism of a class C GPCR
Class C G-protein-coupled receptors (GPCRs) are activated through binding of agonists to
the large extracellular domain (ECD) followed by rearrangement of the transmembrane …
the large extracellular domain (ECD) followed by rearrangement of the transmembrane …
The AnnotSV webserver in 2023: updated visualization and ranking
V Geoffroy, JB Lamouche, T Guignard… - Nucleic Acids …, 2023 - academic.oup.com
Much of the human genetics variant repertoire is composed of single nucleotide variants
(SNV) and small insertion/deletions (indel) but structural variants (SV) remain a major part of …
(SNV) and small insertion/deletions (indel) but structural variants (SV) remain a major part of …
Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges
YA Barbitoff, MO Ushakov, TE Lazareva… - Briefings in …, 2024 - academic.oup.com
Next-generation sequencing (NGS) has revolutionized the field of rare disease diagnostics.
Whole exome and whole genome sequencing are now routinely used for diagnostic …
Whole exome and whole genome sequencing are now routinely used for diagnostic …
Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection
New genes (or young genes) are genetic novelties pivotal in mammalian evolution.
However, their phenotypic impacts and evolutionary patterns over time remain elusive in …
However, their phenotypic impacts and evolutionary patterns over time remain elusive in …