GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis–van Creveld syndrome
نویسندگان
چکیده
منابع مشابه
CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders.
X-linked cyclin-dependent kinase-like 5 (CDKL5 or STK9) has recently been implicated in atypical Rett and X-linked West syndromes, severe neurological disorders associated with mental retardation, loss of communication and motor skills and infantile spasms and seizures in predominantly females. Besides CDKL5, these disease phenotypes are also linked to mutations in the MECP2 and ARX genes. Here...
متن کاملVitamin D Deficiency is Associated with the Metabolic Syndrome in Subjects with Type 2 Diabetes
Background and Objectives: There is convincing evidence that subjects concomitantly affected by type 2 diabetes (T2D) and metabolic syndrome (MeS) are at greater risk for cardiovascular disease (CVD). Many metabolic derangements in T2D might be attributed to poor vitamin D status. The purpose of this study was to investigate the associations among vitamin D status, MeS and glycemic status in su...
متن کاملIs Sudden Hearing Loss Associated with Atherosclerosis?
Introduction: Sudden sensorineural hearing-loss (SSNHL) patients constitute approximately 2–3% of referrals to ear, nose and throat (ENT) clinics. Several predisposing factors have been proposed for this condition; one of which is vascular disorders and perfusion compromise. In this research the atherosclerotic changes and their known risk factors are studied in SSNHL patients. Materials and ...
متن کاملIs Subclinical Thyroid Dysfunction Associated With with Coronary Heart Disease?
Introduction: Previous cohort studies reported contradictory data on the association between subclinical thyroid dysfunction and coronary heart disease (CHD). Regarding this, the present study was conducted to illuminate this relationship. Materials and Methods: For the purpose of the study, 3,066 participants employed in a study conducted by Azizi et al. aged ≥ 20 years were subjected to thyro...
متن کاملZinc Finger 259 Gene Polymorphism rs964184 is Associated with Serum Triglyceride Levels and Metabolic Syndrome
Metabolic syndrome (MetS) is characterized by a cluster of cardiovascular risk factors that include: abdominal obesity, dyslipidaemia, hypertension, insulin resistance and impaired glucose tolerance. Recent genome wide association studies have identified several susceptibility regions involved in lipid metabolism that are also associated with MetS. We have explored the association of 9 genetic ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2017
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddx335