[PDF] Top 20 CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism
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CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism
... concentration with activation of calcium signaling triggering increased expression of CYP11B2 encoding aldoste- rone synthase, which catalyzes the last steps of aldosterone ...majority ... Voir le document complet
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A Renin-ssance in primary aldosteronism testing: obstacles and opportunities for screening, diagnosis, and management
... assessment of lateralization in patients who are potential surgical ...advantage of requiring only a brief outpatient ...sensitivity, with many patients being missed because aldosterone ... Voir le document complet
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What have we learned form monogenic forms of severe insulin resistance associated with PCOS/HAIRAN?
... deficiency of adipose tissue has been shown to play important pathophysiological roles in metabolic ...leptin are severely decreased, contributing to the ectopic lipid storage in non-adipose cells which ... Voir le document complet
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Two different missense C1S mutations, associated to periodontal Ehlers-Danlos syndrome, lead to identical molecular outcomes
... Two different C1S mutations have been initially identified in pEDS patients: the deletion of Val316 ...substitution of Cys294 into Arg ...symptoms of affected individuals were described ... Voir le document complet
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Cytoplasmic and Nuclear Forms of Thyroid Hormone Receptor β1 Are Inversely Associated with Survival in Primary Breast Cancer
... expression of other NR have already been outlined by our lab and others [ 5 – 10 ...(THR) are members of the NR superfamily that mediate the classical genomic actions of thyroid hormone (TH) ... Voir le document complet
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Primary T cell immunodeficiencies associated with disturbed proximal T cell receptor signalling caused by human autosomal recessive LCK, ZAP-70 and ITK-mutations
... year of age, he developed frequent infections of the upper and lower airways and repeatedly received anti-bacterial treatment with moderate ...years of age, he established almost monthly bouts ... Voir le document complet
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Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita.
... Detection of short telomeres with recurrent somatic mutations is a hallmark of various acquired clonal disorders, such as MDS [ 2 , 11 , 12 ], CML [ 13 ], or others [ 2 ...poiesis of ... Voir le document complet
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Tryptophan metabolic pathways are altered in obesity and are associated with systemic inflammation
... levels of TRP, 5-HT, 5-HIAA, IAA, ICAld, ILA, IPA, and IS were log-transformed due to non-normality, as assessed by the Shapiro-Wilk ...markers. Of note, values for hsIL-6 were missing in two non-obese ... Voir le document complet
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HLA-G Haplotypes Are Differentially Associated with Asthmatic Features
... been associated with high HLA-G secretion and G*01:03 and G*01:05N with low HLA-G secretion ( 3 ...association of HLA-G expres- sion and the ex8 ins/del polymorphism ( 16 ); the 3142G allele ... Voir le document complet
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A comparison of the velocity fields associated with vorticities of three different origins
... For one set of flow conditions, the 5-hole probe results were compared to the those obtained by using a hot wire anemometer. The results of these measurements are [r] ... Voir le document complet
189
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations
... description of the affected families Family 1 The proband 1 is a 24-year-old female with history of episodic loss of coordination, dysarthria, and visual disturbance resem- bling ...episode ... Voir le document complet
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High levels of primary biogenic organic aerosols are driven by only a few plant-associated microbial taxa
... leaves are the major direct source of airborne fungi and bacteria during the summer months at this site of high agri- cultural ...constituents are indeed the smallest soil particles ...number ... Voir le document complet
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Oncogene abnormalities in a series of primary melanomas of the sinonasal tract: NRAS mutations and cyclin D1 amplification are more frequent than KIT or BRAF mutations.
... Introduction Primary melanoma of sinonasal tract (PMST) is a rare melanoma variant that primarily develops in the nasal cavity, nasopharynx or paranasal tissue and can thereafter spread in several ...series ... Voir le document complet
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ASC‐1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy
... presentation with neonatal hypotonia (frog position), poor limb movements and respiratory distress requiring tracheostomy and assisted ...scoliosis with dorsal lordosis and unbalanced hips (b,d), thoracic ... Voir le document complet
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New objective measurements of semen wave motion are associated with fertility in sheep
... variance of the velocity field (each component of the velocity considered independently), summed over the sequence; (2) DIV1, the L^1 norm of the divergence of the velocity field, averaged ... Voir le document complet
9
Mutations in GluCl associated with field ivermectin-resistant head lice from Senegal
... USA) with the Hot- star Taq-polymerase (Qiagen, Hilden, ...USA) with an ABI au- tomated sequencer (Applied ...Analysis of the nucleotide and amino acid sequences was conducted us- ing the ClustalW2 ... Voir le document complet
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Heritage Acculturation Is Associated With Contextual Factors at Four Different Levels of Proximity
... consistent with theoretical arguments that acculturation is a contextual phenomenon, tied to factors at many di fferent levels (Kim Park, 2007; Ward & Geeraert, ...strength of this study. In other ... Voir le document complet
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Trophic specializations of damselfishes are tightly associated with reef habitats and social behaviours
... spp.) are found within the Chrominae subfamily ...They are also associated with either live or dead ...types of sub- strate than ...branches of live corals. Stegastes nigricans ... Voir le document complet
15
Are migraine and headache associated with an increased risk of stroke in women?
... results of a large prospective study of 39,754 female US Health Professionals aged over 45 years who participated in the Women’s Health ...diagnosis of stroke was confirmed on the medical record by ... Voir le document complet
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Personality traits are associated with the valence of future imagined events in individuals with schizophrenia
... descriptions of the task appear in Raffard et ...events with certain specific ...present of an SDFP should be at least 1 ...dimensions of specificity and autobiographical reasoning on the basis ... Voir le document complet
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