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Rare Neurovascular Diseases in Korea: Classification and Related Genetic Variants

Song Y, Kwon B, Al-Abdulwahhab AH, Nam YK, Ahn Y, Jeong SY, Seo EJ, Lee JK, Suh DC

Rare neurovascular diseases (RNVDs) have not been well-recognized in Korea. They involve the central nervous system and greatly affect the patients’ lives. However, these diseases are difficult to diagnose and...
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Treatment strategies targeting specific genetic etiologies in epilepsy

Kim HJ, Kang HC

Recent genetic advances allow for identification of the genetic etiologies of epilepsy within individual patients earlier and more frequently than ever. Specific targeted treatments have emerged from improvements in understanding...
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Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present

Qiu J, Kumar KR, Watson E, Ahmad K, Sue CM, Hayes MW

The POLG gene encodes mitochondrial DNA polymerase, and mutations in this gene cause a spectrum of disorders related to mitochondrial DNA depletion or deletion. Dystonia has only rarely been reported...
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Clinical behaviour and outcome in pediatric glioblastoma: current scenario

Singla AK, Madan R, Gupta K, Goyal S, Kumar N, Sahoo SK, Uppal DK, Ahuja CK

Pediatric glioblastoma (pGBM) is a rare entity accounting for only approximately 3% of all childhood brain tumors. Treatment guidelines for pGBM have been extrapolated from those in adult glioblastoma. Rarity...
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Insight into the pathogensis of polycystic ovarian syndrome

Jung YW, Lee GH, Han YJ, Cha DH

Polycystic ovarian syndrome (PCOS) is the most common endocrine disorder in women, which is characterized by the oligo/ anovulation, hyperandrogenism (HA) and polycystic ovarian morphology which are diagnostic criteria. PCOS...
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Rodent models for psychiatric disorders: problems and promises

Baker M, Hong SI, Kang S, Choi DS

Psychiatric disorders are a prevalent global health problem, over 900 million individuals affected by a continuum of mental and substance use disorders. Due to this high prevalence, and the substantial...
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Association between Intracranial Arterial Dolichoectasia and Cerebral Small Vessel Disease and Its Underlying Mechanisms

Zhang DP, Yin S, Zhang HL, Li D, Song B, Liang JX

Intracranial arterial dolichoectasia (IADE), also known as dilatative arteriopathy of the brain vessels, refers to an increase in the length and diameter of at least one intracranial artery, and accounts...
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Understanding the Molecular Mechanisms of Asthma through Transcriptomics

Park HW, Weiss ST

The transcriptome represents the complete set of RNA transcripts that are produced by the genome under a specific circumstance or in a specific cell. High-throughput methods, including microarray and bulk...
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Multiple cerebral cavernousmalformations in association witha Dubowitz-like syndrome

Mostofi A, Gurusinghe NT

Cerebral cavernous malformations (CCMs) are proliferative sinusoidal vascular lesions and are the most common vascular malformations of the brain. They can occur sporadically or secondary to an underlying genetic predisposition where multiple lesions...
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Targeted next-generation sequencing for locally advanced prostate cancer in the Korean population

Suh J, Jeong CW, Choi S, Ku JH, Kim HH, Kim KS, Kwak C

PURPOSE: This study aimed to evaluate the feasibility of pan-cancer panel analysis for locally advanced prostate cancer in the Korean population. MATERIALS AND METHODS: We analyzed 20 patients with locally advanced...
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Genetics of Treatment Outcomes in Major Depressive Disorder: Present and Future

Fabbri C, Serretti A

Pharmacogenetic testing is a useful and increasingly widespread tool to assist in antidepressant prescription. More than ten antidepressants (including tricyclics, selective serotonin reuptake inhibitors and venlafaxine) have already genetic biomarkers...
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A Novel COL4A1 Mutation in a Neonate with Intrauterine Intraventricular Hemorrhage and Porencephaly

Noh J, Jung E, Jung AY, Lee BH, Lee BS, Kim EAR, Kim KS

Collagen type IV alpha 1 (COL4A1) plays an important role in construction of the basement membranes of all human tissues, especially vessels. Mutations in COL4A1 lead to various multisystemic...
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How to Utilize Clinical and Genetic Information for Personalized Treatment of Major Depressive Disorder: Step by Step Strategic Approach

Fabbri C, Serretti A

Depression is the single largest contributor to non-fatal health loss and affects 322 million people globally. The clinical heterogeneity of this disorder shows biological correlates and it makes the personalization...
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Precision medicine in nonalcoholic fatty liver disease: New therapeutic insights from genetics and systems biology

Sookoian S, Pirola CJ

Despite more than two decades of extensive research focusing on nonalcoholic fatty liver disease (NAFLD), no approved therapy for steatohepatitis—the severe histological form of the disease—presently exists. More importantly, new...
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Key competencies for Korean nurses in prenatal genetic nursing: experiential genetic nursing knowledge, and ethics and law

Shin G, Jun M, Kim HK, Wreen M, Kubsch SM

Purpose: This study aims at determining the competencies of Korean nurses in prenatal genetic nursing. Methods: First, a 3-round Delphi survey was conducted to establish prenatal genetic nursing competencies. Second, a...
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Clinical Variables and Genetic Risk Factors Associated with the Acute Outcome of Ischemic Stroke: A Systematic Review

Torres-Aguila NP, Carrera C, Muiño E, Cullell N, Cárcel-Márquez J, Gallego-Fabrega C, González-Sánchez J, Bustamante A, Delgado P, Ibañez L, Heitsch L, Krupinski , Montaner J, Martí-Fàbregas J, Cruchaga C, Lee JM, Fernandez-Cadenas I, Acute Endophenotypes Group of the International Stroke Genetics Consortium (ISGC)

Stroke is a complex disease and one of the main causes of morbidity and mortality among the adult population. A huge variety of factors is known to influence patient outcome,...
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Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders

Kim YE, Ki CS, Jang MA

In 2015, the American College of Medical Genetics and Genomics (ACMG), together with the Association for Molecular Pathology (AMP), published the latest guidelines for the interpretation of sequence variants, which...
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Doctors Discussing “the Root of Koreans”: Medical Genetics and the Korean Origin, 1975–1987

Hyun J

Anthropological genetics emerged as a new discipline to investigate the origin of human species in the second half of the twentieth century. Using the genetic database of blood groups and...
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Genome Engineering for Osteoarthritis: From Designer Cells to Disease-Modifying Drugs

Choi YR, Collins KH, Lee JW, Kang HJ, Guilak F

BACKGROUND: Osteoarthritis (OA) is a highly prevalent degenerative joint disease involving joint cartilage and its surrounding tissues. OA is the leading cause of pain and disability worldwide. At present, there...
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A Genetic Risk Score for Atrial Fibrillation Predicts the Response to Catheter Ablation

Choe WS, Kang JH, Choi EK, Shin SY, Lubitz SA, Ellinor PT, Oh S, Lim HE

BACKGROUND AND OBJECTIVES: The association of susceptibility loci for atrial fibrillation (AF) with AF recurrence after ablation has been reported, although with controversial results. In this prospective cohort analysis, we...
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