osteochondrodysplasias/potasyòm

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Tibial dyschondroplasia in broilers: comparison to dietary additives and strains.

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The effects of broiler strain and various additives to practical corn-soy diets on the incidence of tibial dyschondroplasia (TD) were studied using broiler chicks maintained in battery brooders. At the termination of each experiment, birds were killed and examined for TD by cutting longitudinally

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

Observations on several factors influencing the incidence of tibial dyschondroplasia in broiler chickens.

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The effects of age vs. diet, potassium level, tetramethylthiuram disulfide (thiuram), and ionophores in the diet on the development of tibial dyschondroplasia in broilers was investigated. Changing broiler chicks from a diet that induced tibial dyschondroplasia to one that reduced the disease or

Avian tibial dyschondroplasia. II. Biochemical changes.

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Biochemical parameters (dry matter, DNA, protein, cAMP, and calmodulin) were measured in tibial dyschondroplastic (TD) cartilage. This abnormal cartilage, which is a mass of unmineralized, unvascularized cartilage found in the proximal metaphysis of the tibiotarsus and tarsometatarsus, was compared

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)

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

Three-dimensional facial morphology in Cantú syndrome.

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Cantú syndrome (CS) was first described in 1982, and is caused by pathogenic variants in ABCC9 and KCNJ8 encoding regulatory and pore forming subunits of ATP-sensitive potassium (K_ATP ) channels, respectively. It is characterized by congenital hypertrichosis, osteochondrodysplasia,

Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel.

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Cantú syndrome (CS) is a rare disease characterized by congenital hypertrichosis, distinct facial features, osteochondrodysplasia, and cardiac defects. Recent genetic analysis has revealed that the majority of CS patients carry a missense mutation in ABCC9, which codes for the sulfonylurea receptor

Dominant missense mutations in ABCC9 cause Cantú syndrome.

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Cantú syndrome is characterized by congenital hypertrichosis, distinctive facial features, osteochondrodysplasia and cardiac defects. By using family-based exome sequencing, we identified a de novo mutation in ABCC9. Subsequently, we discovered novel dominant missense mutations in ABCC9 in 14 of the

The expanding phenotypes of cohesinopathies: one ring to rule them all!

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Preservation and development of life depend on the adequate segregation of sister chromatids during mitosis and meiosis. This process is ensured by the cohesin multi-subunit complex. Mutations in this complex have been associated with an increasing number of diseases, termed cohesinopathies. The

Cantú syndrome is caused by mutations in ABCC9.

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Cantú syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Using an exome-sequencing approach applied to one proband-parent trio and three unrelated single cases, we identified heterozygous mutations in ABCC9

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