Disorders Associated with the Gnas Locus
Obesity-Associated GNAS Mutations and the Melanocortin Pathway
... of GNAS missense muta- tions disrupted the interaction between Gα s and ...in GNAS and in those with pseudohypo- parathyroidism type ...in GNAS should be incorporated into the diagnostic workup for ...
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Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib
... lymphocytes where G s α is not imprinted. Heterogeneity in the methylation abnormalities at the GNAS locus in patients affected with PHP-Ib, first reported by Liu et al (13), has been since then confirmed ...
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Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption
... harboring locus imprint- ing alterations: this genotype might induce a slight im- pairment of the Gsα activity which, thank to a higher production of PTH, would preserve normocalcaemia until puberty or even ...
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Treatment of whiplash associated disorders. Treatment of of whiplash associated disorders
... Studies of FAM have been criticized for using samples of patients with chronic symptoms. This is valid criticism since it is perhaps more important to predict and prevent musculoskeletal injuries from developing into ...
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A polymorphism at IGF1 locus is associated with anemia
... is associated with plasma IGF-1 ...not associated with age, gender, BMI, waist circumference, smoking, blood pressure, plasma glucose, HbA1c, type 2 diabetes, HOMA-IR, hsCRP, eGFR, and lipid ...
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Whiplash-associated disorders
... Immediately after the accident the patient is stunned and confused, and complains mainly of any head problem that is present. A feeling of discomfort in the neck, often associated with some degree of nausea, may ...
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Obesity and Associated Disorders
... In the older age groups, which tend to have the highest mortality and morbidity, there appears to be less of an association of weight with mortality than in younger groups. Although obesity is considered a multifactorial ...
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A functional characterisation of the PCSK6 locus associated with handedness
... psychiatric disorders like schizophrenia, autism, anxiety, attention-deficit hyperactivity disorders (Ten Donkelaar and Lammens, 2009, Grimmer and Weiss, ...and disorders including ...
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Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders
... Methods Study subjects This study was performed in Helsinki University Hos- pital, at the Pediatric and Adult Immunodeficiency Units, at the Department of Adult Hematology and at the Division of Pediatric ...
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7. Whiplash-Associated Disorders
... placebo-controlled pilot study in 2000 with 26 chronic whiplash patients (WAD grade II) on the effect of botulinum toxin on neck pain and neck function. The treatment group (group I) received 5 injections of 0.2-mL (20 ...
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THE DIAGNOSIS of whiplash-associated disorders
... Of the few previous studies that have examined po- tential associations between symptoms and MRI findings after acute whiplash trauma (Bonuccelli et al., 1999; Borchgrevink et al., 1997; Karlsborg et al., 1997; Pet- ...
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Epidemiology of Whiplash-Associated Disorders
... 12. Berglund A, Alfredsson L, Jensen I, Bodin L, Nygren A (2003) Occupant-and crash-Related factors associated with risk of whiplash injury. Ann Epidemiol 13:66–72 13. Cassidy JD, Carroll LJ, Côté P et al (2000) ...
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Gene Dosage Effects at the Imprinted Gnas Cluster
... of Gnas in +/DEx1A results in postnatal growth retardation followed by catch up growth and can be attributed solely to loss of imprinting, resulting in biallelic expression, of ...of Gnas [28]. Thus ...
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Parental Psychiatric Disorders Associated With Autism Spectrum Disorders in the Offspring
... psychiatric disorders and children’s diagnosis of autism; however, the specific disorders associated with autism vary by study and may reflect methodologic ...autism associated with paren- tal ...
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Elevated blood pressure, heart rate and body temperature in mice lacking the XL alpha s protein of the Gnas locus is due to increased sympathetic tone
... r What is the main finding and its importance? Gnasxl knock-outs have increased blood pressure, heart rate and body temperature. Heart rate variability analysis suggests an elevated sympathetic tone. The sympatholytic ...
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Early Intervention in Whiplash-Associated Disorders
... Methodologic Aspects In 1993 and 1994 in an accident-prevention study in the southern half of Elfsborg county, the total number of motor vehicle collision associated whiplash injuries was estimated to be ...
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Visualization of HIV-Associated Neurocognitive Disorders
... Neurocognitive disorders occur because of an HIV infection in the brain. When microglia come into contact with HIV, they become activated and destroy the infected cells, as expected. Unfortunately, "excessive ...
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A Contemporary Review on Pregnancy Associated Disorders
... Introduction There are a variety of medical disorders which may impact on a mother’s health during pregnancy and a puerperium [1-5]. Complications of pregnancy are major health problems that may occur during ...
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PHYSIOLOGICAL ROLES AND ASSOCIATED DISORDERS OF ADIPONECTIN
... and disorders related to kidney, lung, liver, and their association with adiponectin remain ...be associated with various disorders such as diabetes mellitus, atherosclerosis, inflammations, cancers, ...
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Menstrual disorders associated with thyroid dysfunction
... Menstrual disorders pose a huge burden on gynecology outpatient department, accounting for approximately 20% of ...thyroid disorders are among the most common endocrine ...thyroid disorders increases ...
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