Targeted Next-Generation Sequencing of the Leptin-Melanocortin Pathway in Severe Obesity. [PDF]
Obesity (Silver Spring)ABSTRACT Objective Pathogenic variants in five established leptin‐melanocortin pathway genes (LEP, LEPR, MC4R, PCSK1, POMC) are associated with severe early‐onset obesity and are targets for emerging treatments. However, these variants are rare in these patients, suggesting the involvement of additional genes interacting with this pathway. Methods Next‐
Faccioli N +12 more
europepmc +2 more sources
MP35-17 NOVEL PATHOGENIC VARIANRTS IN ALMS1 GENE IS ASSICIATED WITH PEYRONIE’S DISEASE AND DEPUYTREN’S DISEASE [PDF]
Journal of Urology, 2021 INTRODUCTION AND OBJECTIVE:Peyronie's disease (PD) is a fibrotic disease of the penis affecting up to 13% of men leading to debilitating penile curvature and inability to have intercourse.
Iakov Efimenko +4 more
openaire +1 more source
Expression of ALMS1 in podocytes: possible role in filtration function
, 2022 Previously, we identified Alstrom Syndrome 1 (ALMS1) as an interacting partner of NKCC2 in the Thick Ascending limb of the loop of Henle (TAL). Mutations in the ALMS1 gene in humans cause Alström syndrome, characterized by progressive metabolic ...
Monu, Sumit R +3 more
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Infant Alstrom syndrome diagnosed by a new gene mutation: a case report
Journal of International Medical Research, 2023 Alstrom syndrome is a rare autosomal recessive disorder resulting from an ALMS1 gene mutation. Here, we present the clinical data of a case of an infant diagnosed with Alstrom syndrome through whole-exome sequencing.
Yujiao Ye +4 more
doaj +1 more source
A child resides within a young adult: The first reported case of Alström syndrome in Bangladesh
Clinical Case Reports, 2022 A 32‐year‐old male case with short stature presented to us with audio‐visual impairment, obesity, impaired glucose tolerance, dyslipidemia, and hypogonadism. The single‐gene genetic analysis revealed an ALMS1 gene mutation.
Mushfiq Newaz Ahmed +6 more
doaj +1 more source
Charakterisierung von ALMS1 (Alstrom syndrome 1)-Transkripten in Hodgkin-Lymphom-Zellen [PDF]
, 2017 Das ALMS1 (Alstrom syndrome 1)-Gen zählt zu den größten bekannten krankheitsassoziierten Genen des menschlichen Genoms und ist an Zellzykluskontrolle, Ziliogenese, Recycling von Endosomen und intrazellulären Transportmechanismen beteiligt.
Braune, Katarina
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Alstrom syndrome (OMIM 203800): a case report and literature review
Orphanet Journal of Rare Diseases, 2007 Background Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss.
Hegele Robert A +6 more
doaj +1 more source
A very early diagnosis of Alstrӧm syndrome by next generation sequencing
BMC Medical Genetics, 2020 Background Alström syndrome is a rare recessively inherited disorder caused by variants in the ALMS1 gene. It is characterized by multiple organ dysfunction, including cone-rod retinal dystrophy, dilated cardiomyopathy, hearing loss, obesity, insulin ...
Leonardo Gatticchi +12 more
doaj +1 more source
GLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1GT/GT, a mouse model for obesity and insulin resistance. [PDF]
PLoS ONE, 2014 Dysregulation of signaling pathways in adipose tissue leading to insulin resistance can contribute to the development of obesity-related metabolic disorders.
Francesca Favaretto +7 more
doaj +1 more source
Mechanisms underlying cardiometabolic complications of Alström Syndrome [PDF]
, 2023 Alström Syndrome (AS) is a rare autosomal recessive disease featuring early onset, severely insulin resistant diabetes, fatty liver and heart failure among other characteristics.
McKay, Eleanor Jane
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