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Scholar Results 1 - 10 of about 101 related to Hearn: Subcellular localization of ALMS1 supports involvement of centrosome and basal body.... (0.08 sec) 

Subcellular localization of ALMS1 supports involvement of centrosome and basal body …


T Hearn, C Spalluto, VJ Phillips, GL Renforth … - Diabetes, 2005 - Am Diabetes Assoc
Alström syndrome is a rare autosomal recessive disorder caused by mutations in
a novel gene of unknown function, ALMS1. Central features of Alström syndrome
include obesity, insulin resistance, and type 2 diabetes, and therefore ...
Cited by 53 - Related articles - All 9 versions

A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence


G Li, R Vega, K Nelms, N Gekakis, C … - PLoS Genet, 2007 - genetics.plosjournals.org
Premature truncation alleles in the ALMS1 gene are a frequent cause of human
Alström syndrome. Alström syndrome is a rare disorder characterized by early
obesity and sensory impairment, symptoms shared with other genetic diseases ...
Cited by 33 - Related articles - Cached - All 11 versions

New Alstrom syndrome phenotypes based on the evaluation of 182 cases


JD Marshall, RT Bronson, GB Collin, AD … - Archives of internal medicine, 2005 - archinte.highwire.org
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Cited by 75 - Related articles - All 8 versions

[PDF] Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes …


T Hearn, GL Renforth, C Spalluto, NA Hanley, … - Nat Genet, 2002 - france.alstrom.free.fr
Alström syndrome (OMIM 203800) is an autosomal recessive dis- ease,
characterized by cone–rod retinal dystrophy, cardiomy- opathy and type 2
diabetes mellitus, that has been mapped to chromosome 2p13 (refs 1–5). We ...
Cited by 105 - Related articles - View as HTML - All 9 versions

Alms1-disrupted mice recapitulate human Alstrom syndrome

- oxfordjournals.org
GB Collin, E Cyr, R Bronson, JD Marshall, EJ … - Human molecular genetics, 2005 - Oxford Univ Press
Mutations in the human ALMS1 gene cause Alström syndrome (AS), a progressive
disease characterized by neurosensory deficits and by metabolic defects
including childhood obesity, hyperinsulinemia and Type 2 diabetes. Other ...
Cited by 32 - Related articles - All 6 versions

[PDF] Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in …


GB Collin, JD Marshall, A Ikeda, WV So, I … - Nat Genet, 2002 - france.alstrom.free.fr
Alström syndrome is a homogeneous autosomal recessive dis- order that is
characterized by childhood obesity associated with hyperinsulinemia, chronic
hyperglycemia and neurosen- sory deficits1,2. The gene involved in Alström ...
Cited by 132 - Related articles - View as HTML - All 7 versions

Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alstrom …


JD Marshall, EG Hinman, GB Collin, S Beck, R … - Human Mutation, 2007 - interscience.wiley.com
Alström syndrome is a monogenic recessive disorder featuring an array of
clinical manifestations, with systemic fibrosis and multiple organ involvement,
including retinal degeneration, hearing loss, childhood obesity, diabetes ...
Cited by 21 - Related articles - BL Direct - All 3 versions

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy

- bmj.com
J Bond, K Flintoff, J Higgins, S Scott, C … - British Medical Journal, 2005 - jmg.bmj.com
In all seven families the index case had presented with symptoms of heart
failure due to a dilated cardiomyopathy in the first year of life, usually
within the first 3 months. One infant had been diagnosed as affected with ...
Cited by 16 - Related articles - All 6 versions

Syndromic obesity and diabetes: changes in body composition with age and mutation …

- endojournals.org
JAL Minton, KR Owen, CJ Ricketts, N Crabtree … - Journal of Clinical Endocrinology & Metabolism, 2006 - Endocrine Soc
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 ...
Cited by 15 - Related articles - BL Direct - All 7 versions

Hypertriglyceridaemia in Alstrom's syndrome: causes and associations in 37 cases


RB Paisey, CM Carey, L Bower, J Marshall, P … - Clinical endocrinology, 2004 - interscience.wiley.com
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Cited by 23 - Related articles - BL Direct - All 4 versions


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