Results 1 to 10 of about 2,695 (146)

Mesenchymal-specific Alms1 knockout in mice recapitulates metabolic features of Alström syndrome. [PDF]

Mol Metab, 2023
OBJECTIVE: Alström Syndrome (AS), caused by biallelic ALMS1 mutations, includes obesity with disproportionately severe insulin resistant diabetes, dyslipidemia, and fatty liver.
McKay EJ, Luijten I, Weng X, Martinez de Morentin PB, De Frutos González E, Gao Z, Kolonin MG, Heisler LK, Semple RK.   +8 more
europepmc   +11 more sources

Loss of the centrosomal protein ALMS1 alters lipid metabolism and the regulation of extracellular matrix-related processes. [PDF]

Biol Direct, 2023
BACKGROUND: Alström syndrome (ALMS) is a rare autosomal recessive disease that is associated with mutations in ALMS1 gene. The main clinical manifestations of ALMS are retinal dystrophy, obesity, type 2 diabetes mellitus, dilated cardiomyopathy and multi-
Bea-Mascato B, Gómez-Castañeda E, Sánchez-Corrales YE, Castellano S, Valverde D.   +4 more
europepmc   +7 more sources

A Role for Alström Syndrome Protein, Alms1, in Kidney Ciliogenesis and Cellular Quiescence [PDF]

PLoS Genetics, 2007
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 affecting proteins of ...
Andersen, Ansley, Arsov, Blacque, Bond, Christopher Goodnow, Collin, Collin, Corbit, Davis, Fan, Fan, Fath, Guochun Li, Hanaoka, Hearn, Hearn, Hua Wu, Keats Nelms, Kim, Kim, Koptides, Kulaga, Lantinga-van Leeuwen, Lin, Lu, Marshall, Marszalek, Moyer, Murcia, Mykytyn, Nancy A. Hong, Nauli, Nicholas Gekakis, Nishimura, Otto, Ou, Pan, Pazour, Pei, Peter McNamara, Praetorius, Qian, Raquel Vega, Richard Glynne, Ross, Russell-Eggitt, Saadi-Kheddouci, Schneider, Simons, Singla, Siroky, Stolc, Takeda, Vassilev, Wang, Wilson, Wu   +57 more
core   +13 more sources

The Alström Syndrome Protein, ALMS1, Interacts with α-Actinin and Components of the Endosome Recycling Pathway [PDF]

PLoS ONE, 2012
Alström syndrome (ALMS) is a progressive multi-systemic disorder characterized by cone-rod dystrophy, sensorineural hearing loss, childhood obesity, insulin resistance and cardiac, renal, and hepatic dysfunction. The gene responsible for Alström syndrome,
Collin, Gayle B., Jagger, Daniel J., King, Benjamin L., Maffei, Pietro, Marshall, Jan D., Milan, Gabriella, Naggert, Jürgen K.   +6 more
core   +14 more sources

Prevalence of Hypertrophic Cardiomyopathy and ALMS1 Variant in Sphynx Cats in New Zealand. [PDF]

Animals (Basel)
Recently, hypertrophic cardiomyopathy (HCM) in Sphynx cats has been associated with a variant in the gene encoding Alström syndrome protein 1 (ALMS1). The primary aims of this study were to describe the prevalence of HCM in Sphynx cats in New Zealand, and to assess the association between HCM and the ALMS1 variant in this population.
Seo J, Loh Y, Connolly DJ, Luis Fuentes V, Dutton E, Hunt H, Munday JS.   +6 more
europepmc   +4 more sources

LncRNA ALMS1-IT1 modulates ferroptosis and immune evasion in colorectal cancer through activating STAT3. [PDF]

J Cell Mol Med
Abstract Colorectal cancer (CRC) represents a significant malignancy within the digestive system, characterized by high incidence and mortality rates. In recent years, molecular targeted therapy has been introduced as a supplementary strategy in CRC management, complementing traditional modalities such as surgery, radiation and chemotherapy.
Wu Z, Zou J, Xie H, Wang J, Huang Y, Liu F, Xing C.   +6 more
europepmc   +2 more sources

Identification and Validation of a m6A-Related Long Noncoding RNA Prognostic Model in Colorectal Cancer. [PDF]

J Cell Mol Med
ABSTRACT Accumulating research indicates that N6‐methyladenosine (m6A) modification plays a pivotal role in colorectal cancer (CRC). Hence, investigating the m6A‐related long noncoding RNAs (lncRNAs) significantly improves therapeutic strategies and prognostic assessments. This study aimed to develop and validate a prognostic model based on m6A‐related
Jiang P, Chu M, Liang Y.
europepmc   +2 more sources

Unveiling the Genetic and Phenotypic Landscape of a Chinese Cohort With Retinitis Pigmentosa. [PDF]

Mol Genet Genomic Med
Our study conducted a genetic analysis of a cohort of 69 Chinese RP patients from 36 families. Genetic and phenotypic landscapes of this cohort were performed. Furthermore, three novel variants were identified in this study, and the high frequency variant (NM_001034853.1: c.2236_2237del) of RPGR detected from a big pedigree was discussed in detail ...
Sun HN, Du KL, Sun Y, Liu C, Xue JH, Wang XX, Liu Y, Yu HH, Ge JY, Rong J, Wang D, Ren Y, Pang JJ, Li JK, Wang ZS.   +14 more
europepmc   +2 more sources

Interactome Analysis Reveals a Link of the Novel ALMS1-CEP70 Complex to Centrosomal Clusters. [PDF]

Mol Cell Proteomics
Alström syndrome (ALMS) is a very rare autosomal-recessive disorder, causing a broad range of clinical defects most notably retinal degeneration, type 2 diabetes, and truncal obesity. The ALMS1 gene encodes a complex and huge ∼0.5 MDa protein, which has hampered analysis in the past.
Woerz F, Hoffmann F, Antony S, Bolz S, Jarboui MA, Junger K, Klose F, Stehle IF, Boldt K, Ueffing M, Beyer T.   +10 more
europepmc   +3 more sources

Whole Exome Sequencing Study Identifies Distinct Characteristics of Transformed Small Cell Lung Cancer With EGFR Mutation Compared to De Novo Small Cell and Primary Non-Small Cell Lung Cancers. [PDF]

Cancer Med
ABSTRACT Background Epidermal growth factor receptor (EGFR)‐mutated lung adenocarcinoma (LUAD) is the most common subtype among non‐small cell lung cancer (NSCLC) and targeted therapies are the primary approach for treatment. However, the development of resistance to therapy and histological transformation into small cell lung cancer (SCLC) present ...
Tan J, Zhao D, Wang Q, Peng Y, Li J, Li X, Che N, Hu Y, Zheng H.   +8 more
europepmc   +2 more sources