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The molecular genetic basis of atrial fibrillation
As the most common cardiac arrhythmia, atrial fibrillation (AF) is a major risk factor for stroke, heart failure, and premature death with...
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Atrial fibrillation—a complex polygenetic disease
Atrial fibrillation (AF) is the most common type of arrhythmia. Epidemiological studies have documented a substantial genetic component. More than...
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Obstructive Sleep Apnea and Stroke: Determining the Mechanisms Behind their Association and Treatment Options
Sleep-disordered breathing (SDB) can be a sequela of stroke caused by vascular injury to vital respiratory centers, cerebral edema, and increased...
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Elevation of miR-302b prevents multiple myeloma cell growth and bone destruction by blocking DKK1 secretion
BackgroundMyeloma bone disease (MBD) is a severe complication of multiple myeloma (MM) mainly due to an imbalance between enhanced osteoclast...
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Genetic association and differential expression of PITX2 with acute appendicitis
Appendicitis affects 9% of Americans and is the most common diagnosis requiring hospitalization of both children and adults. We performed a...
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Genetic Features of Cerebral Stroke
Recent years have seen an increase in interest in the identification of additional genetic factors for cerebral stroke. A large number of studies...
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Admixture map** identifies African and Amerindigenous local ancestry loci associated with fetal growth
Fetal growth is an important determinant of cardiometabolic disease risk during childhood and adulthood. The genetic architecture of fetal growth...
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Chromosome 4q25 Variants and Age at Onset of Ischemic Stroke
Recent genome-wide association studies have identified two variants rs10033464 and rs2200733 on chromosome 4q25, significantly associated with...
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Interpreting the impact of noncoding structural variation in neurodevelopmental disorders
The emergence of novel sequencing technologies has greatly improved the identification of structural variation, revealing that a human genome harbors...
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Genetics of Skeletal Disorders
Bone and mineral diseases encompass a variety of conditions that involve altered skeletal homeostasis and are frequently associated with changes in...
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A de novo complex chromosome rearrangement associated with multisystematic abnormalities, a case report
BackgroundComplex chromosomal rearrangements (CCRs) are constitutional structural rearrangements that involve three or more chromosomes or that have...
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MicroRNA-302a promotes neointimal formation following carotid artery injury in mice by targeting PHLPP2 thus increasing Akt signaling
The excessive proliferation and migration of smooth muscle cells (SMCs) play an important role in restenosis following percutaneous coronary...
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Chromosome Heteromorphism (Summaries)
The following summaries include examples of human chromosome heteromorphisms that have been compiled by us, contributed by individual investigators...
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Pituitary Development and Organogenesis: Transcription Factors in Development and Disease
Many transcription factors that regulate pituitary gland development and specification of hormone-producing cell types have been discovered. Here we...
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A large data resource of genomic copy number variation across neurodevelopmental disorders
Copy number variations (CNVs) are implicated across many neurodevelopmental disorders (NDDs) and contribute to their shared genetic etiology....
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European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management
This guideline aims to describe the complement system and the functions of the constituent pathways, with particular focus on primary...
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Interplay between cardiac transcription factors and non-coding RNAs in predisposing to atrial fibrillation
There is growing evidence that putative gene regulatory networks including cardio-enriched transcription factors, such as PITX2 , TBX5 , ZFHX3 , and SHOX2 ...
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Parental origin of deletions and duplications – about the necessity to check for cryptic inversions
BackgroundCopy number variants (CNVs) are the genetic bases for microdeletion/ microduplication syndromes (MMSs). Couples with an affected child and...
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A stroke gene panel for whole-exome sequencing
Extensive analyses of known monogenic causes of stroke by whole-exome/genome sequencing are technically possible today. We here aimed to compile a...
