Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome.

Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome.

CONTEXT: Alström syndrome (AS) is a monogenic form of infancy-onset obesity and insulin resistance, caused by ALMS1 mutations. The natural history of the insulin resistance is unknown, in particular how this relates to changes in body composition. It is also unclear how ALMS1 mutations relate to the...

Fuld beskrivelse

Bibliografiske detaljer
Main Authors:	Minton, J, Owen, K, Ricketts, C, Crabtree, N, Shaikh, G, Ehtisham, S, Porter, JR, Carey, C, Hodge, D, Paisey, R, Walker, M, Barrett, T
Format:	Journal article
Sprog:	English
Udgivet:	2006

Lignende værker

New variants of ALMS1 gene and familial Alström syndrome case series
af: Isabela Carvalho de Queiroz, et al.
Udgivet: (2024-05-01)

Mesenchymal-specific Alms1 knockout in mice recapitulates metabolic features of Alström syndrome
af: Eleanor J. McKay, et al.
Udgivet: (2024-06-01)

Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström syndrome cardiomyopathy
af: McKay, EJ, et al.
Udgivet: (2024)

Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström syndrome cardiomyopathy
af: Eleanor J. McKay, et al.
Udgivet: (2024-06-01)

Alström syndrome: a paradigm for diffuse fibrosis and clinical progression
af: Edwards Nicola C, et al.
Udgivet: (2013-01-01)

Alström syndrome: the journey to diagnosis
af: Akshat Sinha, et al.
Udgivet: (2025-01-01)

Whole-exome sequencing revealed a novel mutation of the ALMS1 gene in a Chinese family with Alström syndrome: a case report
af: Ming Hu, et al.
Udgivet: (2024-08-01)

Persistent Prothrombotic State in a Patient With Alström Syndrome
af: Nihit Shah, BMBS, BMedSci, et al.
Udgivet: (2024-03-01)

Advanced non-alcoholic fatty liver disease and adipose tissue fibrosis in patients with Alstrom syndrome.
af: Gathercole, L, et al.
Udgivet: (2016)

Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population.
af: Patel, S, et al.
Udgivet: (2006)

The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred.
af: Cavaco, B, et al.
Udgivet: (2001)

Phenoage and longitudinal changes on transthoracic echocardiography in Alström syndrome: a disease of accelerated ageing?
af: Patel, L, et al.
Udgivet: (2023)

Alström’s Syndrome, Leber’s Hereditary Optic Neuropathy, or Retinitis Pigmentosa? A Case of Misdiagnosis
af: Palaiologos Alexopoulos, et al.
Udgivet: (2023-01-01)

Alström syndrome—wide clinical variability within the same variant: a case report and literature review
af: Diana Jecan-Toader, et al.
Udgivet: (2024-09-01)

KINDRED IN DEATH /
af: Robb, J. D., 1950-, author 233833
Udgivet: (2009)

Roles of Magelang Alms Agency in Tasharruf Process of Alms, Infaq and Shadaqah From Muzakki
af: Yasnanto Yasnanto, et al.
Udgivet: (2019-12-01)

Evidence of linkage to chromosome 9q22.33 in colorectal cancer kindreds from the United Kingdom.
af: Kemp, Z, et al.
Udgivet: (2006)

Clinical and genetic studies of the hyperparathyroidism-jaw tumor syndrome (HPT-JT) in a kindred from Portugal.
af: Cavaco, B, et al.
Udgivet: (1999)

Treatment with PBI-4050 in patients with Alström syndrome: study protocol for a phase 2, single-centre, single-arm, open-label trial
af: Baig, S, et al.
Udgivet: (2018)

The tides : and kindred phenomena in the solar system/
af: 187515 Darwin, George Howard
Udgivet: (1962)

Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome
af: Roghayeh Dehghan, et al.
Udgivet: (2022-01-01)

Features of the compound ALM-802 antiarrhythmic action
af: V. V. Barchukov, et al.
Udgivet: (2023-11-01)

Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred.
af: Velayos-Baeza, A, et al.
Udgivet: (2011)

Chorea-Acanthocytosis Genotype in the Original Critchley Kentucky Neuroacanthocytosis Kindred
af: Velayos-Baeza, A, et al.
Udgivet: (2011)

Chorea-acanthocytosis genotype in Critchley's original Kentucky neuroacanthocytosis kindred
af: Velayos-Baeza, A, et al.
Udgivet: (2011)

Postcolonial powers of opposition in Octavia Butler’s Kindred
af: Al Ogaili, Thamer Amer Jubouri, et al.
Udgivet: (2016)

Gema suci : segugus puisi alm Zulkifli Muhammad /
af: Zulkifli Muhammad, et al.
Udgivet: (1975)

Alm'al-nafs al-tarbawi=Pendidikan jiwa /
af: 295523 Abdul Majid Nasywati
Udgivet: (1985)

A Review of Article "Alms-giving" in Encyclopedia of the Quran
af: Seyed Abdolrahim Hosseini, et al.
Udgivet: (2021-01-01)

A Homozygous Nonsense Variant in UVSSA Causes UV-sensitive Syndrome from Very Large Kindred: The First Report from Iran
af: Azam Ahmadi Shadmehri, et al.
Udgivet: (2023-01-01)

ALM – nowatorskie metryki wskaźników wpływu w publikacjach naukowych
af: Martin Fenner, et al.
Udgivet: (2015-12-01)

Study of ALM-802 orto-alkoxi analogues cardiotropic activity
af: G. V. Mokrov, et al.
Udgivet: (2020-04-01)

Cardioprotective effects of compound ALM-802 on subendocardial ischemia models
af: I. B. Tsorin, et al.
Udgivet: (2021-09-01)

Disribution kinetics of cardioprotector ALM-802 in rat organs and tissues
af: O. Yu. Kravtsova, et al.
Udgivet: (2022-07-01)

‘Between righteousness and alms’ in Tobit: What was the author’s real intention?
af: Annette H. Evans
Udgivet: (2020-09-01)

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression.
af: McPherson, E, et al.
Udgivet: (1995)

Update on detection, morphology and fragility in pili annulati in three kindreds.
af: Giehl, K, et al.
Udgivet: (2004)

Reading Time Travel in Octavia E. Butler’s "Kindred" as Sankofa
af: Alena Cicholewski
Udgivet: (2017-07-01)

Absolute bioavailability of a substance with cardioprotective activity (ALM-802) in rats
af: G. B. Kolyvanov, et al.
Udgivet: (2022-01-01)

"Dialectal Texts. Supplement to the Moldavian Linguistic Atlas (ALM)": Reissue Problems
af: Liliana POPOVSCHI
Udgivet: (2023-12-01)