Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective.
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Pathogenesis of the metabolic syndrome: insights from monogenic disordersInsulin resistance and the polycystic ovary syndrome revisited: an update on mechanisms and implications.Thyroid hormone induced brown adipose tissue and amelioration of diabetes in a patient with extreme insulin resistance.Genetic epidemiology of diabetes.MECHANISMS IN ENDOCRINOLOGY: The sexually dimorphic role of androgens in human metabolic disease.INSR gene variation is associated with decreased insulin sensitivity in Iraqi women with PCOs.Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recyclingGenetics in endocrinology: genetic forms of severe insulin resistance: what endocrinologists should know.Clinical use of U-500 regular insulin: review and meta-analysis.Novel roles for insulin receptor (IR) in adipocytes and skeletal muscle cells via new and unexpected substrates.Renal manifestations of severe Rabson-Mendenhall syndrome: a case reportMonogenic diabetes in children and young adults: Challenges for researcher, clinician and patient.Insulin signaling pathways and cardiac growth.Syndrome of extreme insulin resistance (Rabson-Mendenhall phenotype) with atrial septal defect: clinical presentation and treatment outcomesIntracellular lipid accumulation in liver and muscle and the insulin resistance syndrome.Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosisDevelopment of endometrial carcinoma in a patient with leprechaunism (donohue syndrome).Loss of NPC1 function in a patient with a co-inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance.Metreleptin improves blood glucose in patients with insulin receptor mutations.Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations.Syndromic insulin resistance: models for the therapeutic basis of the metabolic syndrome and other targets of insulin resistance.Two novel mutations identified in familial cases with Donohue syndromeAcne-associated syndromes: models for better understanding of acne pathogenesis.Mechanistic insights into insulin resistance in the genetic era.PI3K/AKT, MAPK and AMPK signalling: protein kinases in glucose homeostasis.Insulin signalling to the kidney in health and disease.Glucagon receptor inhibition normalizes blood glucose in severe insulin-resistant mice.Rabson Mendenhall Syndrome caused by a novel missense mutation.Hoofbeats, zebras, and insights into insulin resistance.Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidenceNovel mutation in insulin receptor gene identified after muscle biopsy in a Niuean woman with severe insulin resistance.Safety and effectiveness of U-500 insulin therapy in patients with insulin-resistant type 2 diabetes mellitus.Clinical evidence that hyperinsulinaemia independent of gonadotropins stimulates ovarian growth.One novel 2.43Kb deletion and one single nucleotide mutation of the INSR gene in a Chinese neonate with Rabson-Mendenhall syndrome.Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?Hyperinsulinemia and Insulin Receptor Gene Mutation in Nonobese Healthy Subjects in Japan.Type B Insulin Resistance Masquerading as Ovarian Hyperthecosis.Nicolaides-Baraitser syndrome: defining a phenotype.Mecasermin in Insulin Receptor-Related Severe Insulin Resistance Syndromes: Case Report and Review of the Literature.
P2860
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P2860
Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Clinical course of genetic dis ...... romes): a 30-year prospective.
@ast
Clinical course of genetic dis ...... romes): a 30-year prospective.
@en
type
label
Clinical course of genetic dis ...... romes): a 30-year prospective.
@ast
Clinical course of genetic dis ...... romes): a 30-year prospective.
@en
prefLabel
Clinical course of genetic dis ...... romes): a 30-year prospective.
@ast
Clinical course of genetic dis ...... romes): a 30-year prospective.
@en
P2093
P1433
P1476
Clinical course of genetic dis ...... romes): a 30-year prospective.
@en
P2093
Carla Musso
Elaine Cochran
Elif Arioglu Oral
Monica C Skarulis
Phillip Gorden
Simeon Taylor
Stephanie Ann Moran
P304
P356
10.1097/01.MD.0000133625.73570.54
P407
P577
2004-07-01T00:00:00Z