Spanish
Albanian
Arabic
Armenian
Azerbaijani
Belarusian
Bengali
Bosnian
Catalan
Czech
Danish
Deutsch
Dutch
English
Estonian
Finnish
Français
Greek
Haitian Creole
Hebrew
Hindi
Hungarian
Icelandic
Indonesian
Irish
Italian
Japanese
Korean
Latvian
Lithuanian
Macedonian
Mongolian
Norwegian
Persian
Polish
Portuguese
Romanian
Russian
Serbian
Slovak
Slovenian
Spanish
Swahili
Swedish
Turkish
Ukrainian
Vietnamese
Български
中文(简体)
中文(繁體)
pseudohypoparathyroidism/arginina
El enlace se guarda en el portapapeles.
15 resultados
Evidence for normal antidiuretic responses to endogenous and exogenous arginine vasopressin in patients with guanine nucleotide-binding stimulatory protein-deficient pseudohypoparathyroidism.
Solo los usuarios registrados pueden traducir artículos
Iniciar sesión Registrarse
In six patients with pseudohypoparathyroidism (PHP) who were deficient in guanine nucleotide-binding stimulatory protein (Ns) activity, the response to endogenous arginine vasopressin (AVP) was tested during water deprivation. Hourly plasma osmolality (Posm), urinary osmolality (Uosm), and urinary
A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism.
Solo los usuarios registrados pueden traducir artículos
Iniciar sesión Registrarse
A novel G(S alpha) mutation encoding the substitution of arginine for serine 250 (G[S alpha] S250R) was identified in a patient with pseudohypoparathyroidism type Ia. Both G(S) activity and G(S alpha) expression were decreased by about 50% in erythrocyte membranes from the affected patient. The cDNA
Multiple associated endocrine abnormalities in a patient with pseudohypoparathyroidism type 1a.
Solo los usuarios registrados pueden traducir artículos
Iniciar sesión Registrarse
A girl with type 1a pseudohypoparathyroidism (PHP) presented several hormonal abnormalities. Although she had eluded neonatal thyroid screening, she was diagnosed as having hypothyroidism at the age of 5 months. Thereafter, a diagnosis of PHP was made on the basis of skeletal features of Albright
Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With Pseudohypoparathyroidism 1A.
Solo los usuarios registrados pueden traducir artículos
Iniciar sesión Registrarse
Pseudohypoparathyroidism 1A (PHP1A) consists of signs of Albright hereditary osteodystrophy (AHO) and multiple, variable hormonal resistances. Elevated PTH levels are the biochemical hallmark of the disease. Short stature in PHP1A may be caused by a form of accelerated chondrocyte differentiation
Improvement in abnormal secretion of thyrotropin and gonadotropin after restoration of serum calcium is pseudohypoparathyroidism.
Solo los usuarios registrados pueden traducir artículos
Iniciar sesión Registrarse
A 25 yr-old woman patient was admitted because of convulsion. The diagnosis of pseudohypoparathyroidism was made on the basis of typical stigmata, lowered serum calcium, increased serum phosphorus and parathyroid hormone levels, and defective response in urinary excretion of cyclic AMP and
Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type ia: new evidence for imprinting of the Gs alpha gene.
Solo los usuarios registrados pueden traducir artículos
Iniciar sesión Registrarse
Heterozygous inactivating mutations in the Gs alpha gene cause Albright's hereditary osteodystrophy. Consistent with the observation that only maternally inherited mutations lead to resistance to hormone action [pseudohypoparathyroidism type Ia (PHP Ia)], recent studies provided evidence for a
Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of Gsalpha impairs receptor stimulation.
Solo los usuarios registrados pueden traducir artículos
Iniciar sesión Registrarse
Pseudohypoparathyroidism, type Ia (PHP-Ia), is a dominantly inherited endocrine disorder characterized by resistance to hormones that act by stimulating adenylyl cyclase. It is caused by inheritance of an autosomal mutation that inactivates the alpha subunit (alphas) of Gs, the stimulatory regulator
Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib.
Solo los usuarios registrados pueden traducir artículos
Iniciar sesión Registrarse
Pseudohypoparathyroidism (PHP) is associated with compromised signal transductions via PTH receptor (PTH-R) and other G-protein-coupled receptors including GHRH-R. To date, while GH deficiency (GHD) has been reported in multiple patients with PHP-Ia caused by mutations on the maternally expressed
Pseudohypoparathyroidism type 1a and insulin resistance in a child.
Solo los usuarios registrados pueden traducir artículos
Iniciar sesión Registrarse
Background. A 5-year-old white girl with a history of hypothyroidism in infancy presented to the endocrinology clinic of a tertiary hospital. Her physical examination noted a stocky physique, broad chest, short neck and short digits. Two years later, skin examination revealed subcutaneous nodules
GH secretion in a cohort of children with pseudohypoparathyroidism type Ia.
Solo los usuarios registrados pueden traducir artículos
Iniciar sesión Registrarse
Pseudohypoparathyroidism type Ia (PHP-Ia) is characterized by Albright's hereditary osteodistrophy (AHO) and resistance to hormones that act via the alpha subunit of the Gs protein (Gsalpha) protein, ie PTH, TSH, FSH/LH, and, as recently described in limited series, GHRH. However, the current lack
Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib.
Solo los usuarios registrados pueden traducir artículos
Iniciar sesión Registrarse
BACKGROUND
Pseudohypoparathyroidism (PHP) types Ia and Ib, are caused by mutations in GNAS exons 1-13 and GNAS methylation defects, respectively. PHP-Ia patients show Albright hereditary osteodystrophy (AHO) and resistance toward PTH and additional hormones, whereas PHP-Ib patients do not have AHO
Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance.
Solo los usuarios registrados pueden traducir artículos
Iniciar sesión Registrarse
Albright hereditary osteodystrophy (AHO) is a genetic disorder caused by heterozygous inactivating mutations in GNAS1, the gene encoding the alpha-chain of G(s), and is associated with short stature, obesity, brachydactyly, and sc ossifications. AHO patients with GNAS1 mutations on maternally
A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism.
Solo los usuarios registrados pueden traducir artículos
Iniciar sesión Registrarse
Hypocalcemia and hyperphosphatemia are encountered in idiopathic hypoparathyroidism (IHP) and pseudohypoparathyroidism type Ib (PHP1B). In contrast to PHP1B, which is caused by resistance toward parathyroid hormone (PTH), the genetic defects leading to IHP impair production of this important
Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis.
Solo los usuarios registrados pueden traducir artículos
Iniciar sesión Registrarse
BACKGROUND
The stimulatory G-protein α-subunit encoded by GNAS exons 1-13 (GNAS-Gsα) mediates signal transduction of multiple G protein-coupled receptors, including arginine vasopressin receptor 2 (AVPR2). Various germline-derived loss-of-functionFurther delineation of the phenotype caused by loss of function mutations in PRMT7.
Solo los usuarios registrados pueden traducir artículos
Iniciar sesión Registrarse
PRMT7 encodes for an arginine methyltransferase that methylates arginine residues on various protein substrates and has been shown to play a role in various developmental processes. Mutations in PRMT7 have been recently shown to be implicated in a phenotype with intellectual disability, short
La base de datos de hierbas medicinales más completa respaldada por la ciencia
- Funciona en 55 idiomas
- Curas a base de hierbas respaldadas por la ciencia
- Reconocimiento de hierbas por imagen
- Mapa GPS interactivo: etiquete hierbas en la ubicación (próximamente)
- Leer publicaciones científicas relacionadas con su búsqueda
- Buscar hierbas medicinales por sus efectos.
- Organice sus intereses y manténgase al día con las noticias de investigación, ensayos clínicos y patentes.
Escriba un síntoma o una enfermedad y lea acerca de las hierbas que podrían ayudar, escriba una hierba y vea las enfermedades y los síntomas contra los que se usa.
* Toda la información se basa en investigaciones científicas publicadas.
