pseudohypoparathyroidism/arginine

Krækjan er vistuð á klemmuspjaldið

GreinarKlínískar rannsóknirEinkaleyfi

Veldu tegund tegund

15 niðurstöður

Evidence for normal antidiuretic responses to endogenous and exogenous arginine vasopressin in patients with guanine nucleotide-binding stimulatory protein-deficient pseudohypoparathyroidism.

Aðeins skráðir notendur geta þýtt greinar

Skráðu þig / skráðu þig

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.

Aðeins skráðir notendur geta þýtt greinar

Skráðu þig / skráðu þig

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.

Aðeins skráðir notendur geta þýtt greinar

Skráðu þig / skráðu þig

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.

Aðeins skráðir notendur geta þýtt greinar

Skráðu þig / skráðu þig

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.

Aðeins skráðir notendur geta þýtt greinar

Skráðu þig / skráðu þig

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.

Aðeins skráðir notendur geta þýtt greinar

Skráðu þig / skráðu þig

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.

Aðeins skráðir notendur geta þýtt greinar

Skráðu þig / skráðu þig

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.

Aðeins skráðir notendur geta þýtt greinar

Skráðu þig / skráðu þig

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.

Aðeins skráðir notendur geta þýtt greinar

Skráðu þig / skráðu þig

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.

Aðeins skráðir notendur geta þýtt greinar

Skráðu þig / skráðu þig

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.

Aðeins skráðir notendur geta þýtt greinar

Skráðu þig / skráðu þig

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.

Aðeins skráðir notendur geta þýtt greinar

Skráðu þig / skráðu þig

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.

Aðeins skráðir notendur geta þýtt greinar

Skráðu þig / skráðu þig

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.

Aðeins skráðir notendur geta þýtt greinar

Skráðu þig / skráðu þig

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-function

Further delineation of the phenotype caused by loss of function mutations in PRMT7.

Aðeins skráðir notendur geta þýtt greinar

Skráðu þig / skráðu þig

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

Skráðu þig á
facebook síðu okkar

Herbal & Natural Medicine

Heillasta gagnagrunnur lækningajurtanna sem studdur er af vísindum

Virkar á 55 tungumálum
Jurtalækningar studdir af vísindum
Jurtaviðurkenning eftir ímynd
Gagnvirkt GPS kort - merktu jurtir á staðsetningu (kemur fljótlega)
Lestu vísindarit sem tengjast leit þinni
Leitaðu að lækningajurtum eftir áhrifum þeirra
Skipuleggðu áhugamál þitt og vertu vakandi með fréttarannsóknum, klínískum rannsóknum og einkaleyfum

Sláðu inn einkenni eða sjúkdóm og lestu um jurtir sem gætu hjálpað, sláðu jurt og sjáðu sjúkdóma og einkenni sem hún er notuð við.
* Allar upplýsingar eru byggðar á birtum vísindarannsóknum