hypertrichosis/kalín

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Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil.

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Cantu syndrome is an autosomal dominant disorder, first described by Cantu in 1982, that is characterized by congenital hypertrichosis, characteristic facial anomalies and cardiomegaly. Recent investigations have revealed that this syndrome is caused by mutations of ABCC9, which encodes a regulatory

Topical sulfonylurea as a novel therapy for hypertrichosis secondary to diazoxide, and potentially for other conditions with excess hair growth.

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It is hypothesized that a topical application of a sulfonylurea drug, which can inhibit the ATP-sensitive potassium-gated channels (Kir6.X/SUR) present in human hair bulb tissues, will inhibit hair growth in a targeted manner. Diazoxide is used to treat severe hypoglycemia due to hyperinsulinism of

A novel mutation in the KCNJ8 gene encoding the Kir6.1 subunit of an ATP-sensitive potassium channel in a Japanese patient with Cantú syndrome.

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Cantú syndrome (CS: OMIM239850) is an autosomal dominant inherited disorder characterized by congenital hypertrichosis, coarse facial features, osteochondrodysplasia and cardiomegaly. CS is caused by gain-of-function (GOF) mutations in the ABCC9 (ATP binding cassette subfamily member 9) and KCNJ8

A new type of ATP-sensitive potassium channelopathy : Cantú syndrome.

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Multiple mutations in Kir6.x and SURx genes have implicated ATP-sensitive potassium (KATP) channels and, as a result, have led to diverse diseases, ranging from diabetes and hyperinsulinism to cardiac arrhythmias and cardiovascular disease. These diseases are referred to as KATP channelopathies.

Potassium channel conductance: a mechanism affecting hair growth both in vitro and in vivo.

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The opening of intracellular potassium channels has been suggested as a mechanism regulating hair growth. Enhancing the flux of potassium ions is a mechanism shared by several structurally diverse antihypertensive agents including minoxidil sulfate (the active metabolite of minoxidil), pinacidil,

Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel.

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Cantu syndrome (CS) is a condition characterized by a range of anatomical defects, including cardiomegaly, hyperflexibility of the joints, hypertrichosis, and craniofacial dysmorphology. CS is associated with multiple missense mutations in the genes encoding the regulatory sulfonylurea receptor 2

Diazoxide for the Treatment of Hypoglycemia Resulting From Dumping Syndrome in a Child.

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Dumping syndrome-associated hypoglycemia is caused by an exaggerated hyperinsulinemic response to glucose absorption in the small intestine. Diazoxide acts on the ATP-sensitive potassium channels and prevents insulin secretion and, thus, should be beneficial for the treatment of hypoglycemia

KATP channels and cardiovascular disease: suddenly a syndrome.

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ATP-sensitive potassium (KATP) channels were first discovered in the heart 30 years ago. Reconstitution of KATP channel activity by coexpression of members of the pore-forming inward rectifier gene family (Kir6.1, KCNJ8, and Kir6.2 KCNJ11) with sulfonylurea receptors (SUR1, ABCC8, and SUR2, ABCC9)

'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.

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KCNH1 mutations have recently been described in six individuals with Temple-Baraitser syndrome (TMBTS) and six individuals with Zimmermann-Laband syndrome (ZLS). TMBTS is characterized by intellectual disability (ID), epilepsy, dysmorphic facial features, broad thumbs and great toes with

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.

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Cantú syndrome (CS), first described in 1982, is caused by pathogenic variants in ABCC9 and KCNJ8, which encode the regulatory and pore forming subunits of ATP-sensitive potassium (K_ATP ) channels, respectively. Multiple case reports of affected individuals have described the various

Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants

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Cantú syndrome (CS) is a rare developmental disorder characterized by a coarse facial appearance, macrocephaly, hypertrichosis, skeletal and cardiovascular anomalies and caused by heterozygous gain-of-function variants in ABCC9 and KCNJ8, encoding heterooctameric ATP-sensitive potassium

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.

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KCNJ8 (NM_004982) encodes the pore forming subunit of one of the ATP-sensitive inwardly rectifying potassium (KATP) channels. KCNJ8 sequence variations are traditionally associated with J-wave syndromes, involving ventricular fibrillation and sudden cardiac death. Recently, the KATP gene ABCC9

A Case Report of Scrotal Rejuvenation: Laser Treatment of Angiokeratomas of the Scrotum.

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Scrotal rejuvenation encompasses not only the functional quality but also the aesthetic appearance of the scrotum. It includes medical therapy and procedural interventions to improve scrotal conditions that require morphologic restoration and/or aesthetic alteration. Rejuvenation of the scrotum may

Cyclosporine level at the second hour in pediatric hematopoietic stem cell transplant patients.

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In this retrospective study, cyclosporine levels at the second hour (C2 levels) were measured during oral cyclosporine intake in 28 pediatric hematopoietic stem cell transplant patients, and the relations between cyclosporine dosage and C0, C2 levels, C2/C0 ratio, and cyclosporine-related adverse

[Controlled clinical study of Consupren versus cyclophosphamide in chronic glomerulonephritis. II. Adverse effects].

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BACKGROUND The second part of the study was designed to assess Consupren side effects. RESULTS The groups of patients studied were described in Part I. Side affects typical of Cy-A were evaluated only in the CS group. Gastrointestinal intolerance, only mild and temporary, was observed in 31%,

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