Neutralization of DBI/ACBP for the prevention of ciliopathy-associated obesity.

Adult-Onset Diabetes and Liver Fibrosis as Diagnostic Clues to Alström Syndrome: A Case Report.

A systems perspective on rare diseases: integrating human phenotype ontology with the Anukta framework of Ayurveda.

Black parents' views and understanding of prenatal genetic testing: a cross-sectional survey of attitudes, knowledge and trust in UK healthcare.

Characterisation of a Missense Variant of the Alström Syndrome Centrosome and Basal Body Associated Protein (ALMS1) Gene Associated with Cardiomyopathy Using Induced Pluripotent Stem Cells.

Alms1 KO Rat: A New Model of Cardiometabolic Syndrome With Spontaneous Hypertension.

"You think everything's fine and then it starts not being fine": a qualitative descriptive study exploring the prenatal testing experiences of Black women living in England.

Delayed Clinical Diagnosis of Alström Syndrome in a Resource-Limited Setting: A Case Report From Rural Pakistan.

Clinical Presentation of a Child With a Novel ALMS1 Variant Associated With Alström Syndrome and Favorable Response to GLP-1 Receptor Agonist Therapy.

Identification of ACBP as a potential target in ciliopathic obesity through multi-omics network analysis.

Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features.

Efficacy of Semaglutide in Pediatric Patients With Bardet-Biedl Syndrome and Alström Syndrome.

Multi-matrix metabolomics in rare monogenic diabetes syndromes: Analysis of oral fluids and serum in carriers of pathogenic variants in the ALMS1/BBS genes.

Evaluation of the Oral Microbiome in Patients with Alström and Bardet-Biedl Syndromes and Their Heterozygous Family Members.

Alström syndrome in China: epidemiologic trends, geographic distribution, and clinical-socioeconomic profiles under innovative care models.

Phosphoproteomic profiling highlights CDC42 and CDK2 as key players in the regulation of the TGF-β pathway in ALMS1 and BBS1 knockout models.

Transitioning adolescents with rare forms of diabetes to adult care: challenges and perspectives.

Endocrine metabolism characteristics of Alström syndrome in 25 Chinese patients and identification of a new splice site in the ALMS1 gene.

Multidimensional Characterisation of Eating Behaviour in Genetic Obesity: A Systematic Review.

Co-occurrence of homozygous ALMS1 variant, 17q11.2 mosaic and germline deletions, and VSX2 nonsense variant in a single family.

Identification of Variants in Four Families With Inherited Eye Disorders by Whole Exome Sequencing.

Obesity and Kidney Disease: A Focus on Ciliopathies.

Ciliopathy: Alström Syndrome.

First live birth after in vitro fertilization in a woman with Alström syndrome: a case report.

A Case of Siblings with End-Stage Kidney Disease and Retinal Degeneration Suggestive of Partial Alström Syndrome.

Musculoskeletal deformities of Alström syndrome-a review of 55 cases.

Centriole biogenesis is seeded by CEP152-CEP63-PCNT aggregates propagating outside the centriole through the Alström syndrome protein ALMS1.

Sudden acquired retinal degeneration syndrome may be an acquired primary ciliopathy, phenotypically similar to human Alström and Bardet-Biedl syndromes.

Defining Puberty and Spectrum of Hypogonadism in Alström Syndrome.

Ocular Characteristics and Genotype-Oriented Disease Spectrum of Alström Syndrome in Taiwan.

Codevelopment of a complex intervention to reduce inequalities in paediatric diabetes secondary care outcomes for children with type 1 diabetes from underserved groups.

Effectiveness of the Dual GIP/GLP1-Agonist Tirzepatide in 2 Cases of Alström Syndrome, a Rare Obesity Syndrome.

Can an Animation Improve Parents' Knowledge and How Does It Compare to Written Information? Development and Survey Evaluation of an Animation for Parents About Prenatal Sequencing.

'I Have my Beliefs, but Then I Have my Reality': Reflections of Black and South Asian Parents Living in England on Screening and Genetic Diagnosis in Pregnancy.

Drosophila Alms1 proteins regulate centriolar cartwheel assembly by enabling Plk4-Ana2 amplification loop.

The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.

Alström syndrome: A rare cause of dilated cardiomyopathy in five Chinese children.

The Financial Impact of Ehlers-Danlos Syndromes on Patients in the United States in 2022.

Alström syndrome: the journey to diagnosis.

Infantile Dilated Cardiomyopathy in Alström Syndrome.

Setmelanotide: A Melanocortin-4 Receptor Agonist for the Treatment of Severe Obesity Due to Hypothalamic Dysfunction.

ALMS1 KO rat: a new model of metabolic syndrome with spontaneous hypertension.

Alström syndrome-wide clinical variability within the same variant: a case report and literature review.

Equity and timeliness as factors in the effectiveness of an ethical prenatal sequencing service: reflections from parents and professionals.

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

Ophthalmic findings in Alström syndrome.

Preferences for coordinated care for rare diseases: discrete choice experiment.

Characterisation of infantile cardiomyopathy in Alström syndrome using ALMS1 knockout induced pluripotent stem cell derived cardiomyocyte model.

Obesity-Related Ciliopathies: Focus on Advances of Biomarkers.

Identification of novel compound heterozygous variants of the ALMS1 gene in a child with Alström syndrome by whole genome sequencing.

Whole-exome sequencing revealed a novel mutation of the ALMS1 gene in a Chinese family with Alström syndrome: a case report.

Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.

Advanced Chronic Kidney Disease (CKD) in a Patient With Alstrom Syndrome.

Alström Syndrome: A Challenging Case Study of a Female Saudi Patient With Type 2 Diabetes Mellitus and Complete Vision Loss.

Defining the cardiovascular phenotype of adults with Alström syndrome.

Alström Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy.

Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström syndrome cardiomyopathy.

[Clinical and genetic analysis of a Chinese patient with Alström syndrome].

Syndromic ciliopathy: a taiwanese single-center study.

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

Alstrom syndrome with classical findings: a rare case report of monogenic ciliopathy co-occurrence in twins.

A CASE OF ALSTRÖM SYNDROME WITH A NOVEL VARIANT IN ALMS1 GENE PRESENTING WITH CONE ROD DYSTROPHY AS FIRST FINDING.

Overburden of rare ALMS1 deleterious variants in Chinese early-onset type 2 diabetes with severe insulin resistance.

CircALMS1 Alleviates Pulmonary Microvascular Endothelial Cell Dysfunction in Pulmonary Hypertension.

Persistent Prothrombotic State in a Patient With Alström Syndrome.

'Something that helped the whole picture': Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service.

New variants of ALMS1 gene and familial Alström syndrome case series.

Bardet-Biedl syndrome: A clinical overview focusing on diagnosis, outcomes and best-practice management.

Alström syndrome mimicking spasmus nutans: report of a novel ALMS1 variant.

A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis.

Whole-exome sequencing reveals novel variants of monogenic diabetes in Tunisia: impact on diagnosis and healthcare management.

Unique phenotypic-genotypic correlation in Saudi patients with ALMS1 mutations.

Glucagon-like peptide-1 analogues in monogenic syndromic obesity: Real-world data from a large cohort of Alström syndrome patients.

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

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

Serum metabolomics identified specific lipid compounds which may serve as markers of disease progression in patients with Alström and Bardet-Biedl syndromes.

Alström's Syndrome, Leber's Hereditary Optic Neuropathy, or Retinitis Pigmentosa? A Case of Misdiagnosis.

Experiences of coordinated care for people in the UK affected by rare diseases: cross-sectional survey of patients, carers, and healthcare professionals.

Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family.

Alström Syndrome: A Rare Cause of Severe Insulin Resistance.

Mesenchymal-specific Alms1 knockout in mice recapitulates key metabolic features of Alström Syndrome.

Phenoage and longitudinal changes on transthoracic echocardiography in Alström syndrome: a disease of accelerated ageing?

Searching for Effective Methods of Diagnosing Nervous System Lesions in Patients with Alström and Bardet-Biedl Syndromes.

Energy expenditure deficits drive obesity in a mouse model of Alström syndrome.

[Clinical characteristics and genetic analysis of a Chinese pedigree affected with Alström syndrome].

Role of Alström syndrome 1 in the regulation of glomerular hemodynamics.

Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy.

Hematopoietic Stem Cell Progenitors Driving Metabolic Disturbance in Alström Syndrome.

Infant Alstrom syndrome diagnosed by a new gene mutation: a case report.

Portal hypertension and gastrointestinal bleeding in a kidney transplant patient with Alström syndrome.

HCM-associated ALMS1 variant: Allele drop-out and frequency in Italian Sphynx cats.

Genotype-phenotype associations in Alström syndrome: a systematic review and meta-analysis.

Chromophore supply modulates cone function and survival in retinitis pigmentosa mouse models.

Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan.

Diagnosis, treatment and genetic analysis of a case of Alstrom syndrome caused by compoud heterozygous mutation of ALMS1.

Supportive care in a patient with Alstrom syndrome with hyperphenylalaninemia and sleep problems.

Co-Occurrence of Nephronophthisis Type 1 and Alström Syndrome: A Case Report.

Hematopoietic Stem Cells and Metabolic Deterioration in Alström Syndrome, a Rare Genetic Model of the Metabolic Syndrome.

A Rare Cause of Infantile-Onset Cardiomyopathy With Ocular Manifestations: Alström Syndrome.

A novel missense ALMS1 variant causes aberrant splicing identified in a cohort of patients with Alström syndrome.

Alström syndrome caused by maternal uniparental disomy.

Proteomic and Transcriptomic Landscapes of Alström and Bardet-Biedl Syndromes.

Identification of a novel mutation in ALMS1 in a Chinese patient with monogenic diabetic syndrome by whole-exome sequencing.

A child resides within a young adult: The first reported case of Alström syndrome in Bangladesh.

Association of circulating miRNAS in patients with Alstrőm and Bardet-Biedl syndromes with clinical course parameters.

Syndromic and non-syndromic etiologies causing neonatal hypocalcemic seizures.

Successful Heart Transplant in Dilated Cardiomyopathy Associated With Alström Syndrome: A Case Report.

Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.

Depletion of ALMS1 affects TGF-β signalling pathway and downstream processes such as cell migration and adhesion capacity.

Case Report:Pregnancy and birth in a mild phenotype of Alström syndrome.

Ocular findings and genetic test in Alström syndrome in childhood.

Genetic obesity: an update with emerging therapeutic approaches.

New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome.

Inherited causes of combined vision and hearing loss: clinical features and molecular genetics.

Alström syndrome: Two clinical cases with two novel pathogenic variants.

Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy.

Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology.

Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service.

Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet-Biedl Syndrome.

Alström Syndrome with Early Vision and Hearing Impairement.

Primary Cilia in Pancreatic β- and α-Cells: Time to Revisit the Role of Insulin-Degrading Enzyme.

PATAS, a First-in-Class Therapeutic Peptide Biologic, Improves Whole-Body Insulin Resistance and Associated Comorbidities In Vivo.

Identification of bone metabolism disorders in patients with Alström and Bardet-Biedl syndromes based on markers of bone turnover and mandibular atrophy.

Identification of ALMS1 pathogenic variants in Chinese patients with Alström syndrome.

Hearing Loss in Adults With Alström Syndrome-Experience From the UK National Alström Service.

Retinal dystrophies: A look beyond the eyes.

Diagnosing Alström syndrome in a patient followed up with syndromic obesity for years.

Whole-exome sequencing establishes a diagnosis of Alstrom syndrome: a case report.

A novel variant site of Alstrom syndrome in a Chinese child: a case report.

Developing a taxonomy of care coordination for people living with rare conditions: a qualitative study.

Mechanisms of Weight Control by Primary Cilia.

Neovascularization of the optic disc and peripheral retinal ischemia in a child with a novel variant in ALMS1 (Alström syndrome).

Histological Manifestations of Diabetic Kidney Disease and its Relationship with Insulin Resistance.

Novel mutations of the Alström syndrome 1 gene in an infant with dilated cardiomyopathy: A case report.

Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients.

Development of models of care coordination for rare conditions: a qualitative study.

Spinal fusion with motor evoked potential monitoring using remimazolam in Alström syndrome: A case report.

A review of Alström syndrome: a rare monogenic ciliopathy.

[Alström syndrome, a rare cause of renal failure: case report and review of the literature].

The Hedgehog Signaling Pathway is Expressed in the Adult Mouse Hypothalamus and Modulated by Fasting.

Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome.

Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts.

Birt-Hogg-Dubé syndrome associated with chorioretinopathy and nyctalopia: a case report and review of the literature.

Anesthetic Considerations in Alström Syndrome: A Case Report.

Amiodarone-induced multiple organ damage in an Alström syndrome patient with end-stage renal disease and hepatic cirrhosis.

Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome.

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.

Sleep and physical activity patterns in adults and children with Bardet-Biedl syndrome.

Exocrine pancreas proteases regulate β-cell proliferation in zebrafish ciliopathy models and in murine systems.

Impaired Ca2+ signaling due to hepatic steatosis mediates hepatic insulin resistance in Alström syndrome mice that is reversed by GLP-1 analog treatment.

The efficacy and safety of setmelanotide in individuals with Bardet-Biedl syndrome or Alström syndrome: Phase 3 trial design.

Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families.

Alström syndrome with a novel mutation of ALMS1 and Graves' hyperthyroidism: A case report and review of the literature.

Liver Fibrosis and Steatosis in Alström Syndrome: A Genetic Model for Metabolic Syndrome.

alms1 mutant zebrafish do not show hair cell phenotypes seen in other cilia mutants.

Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis.

Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients.

A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat.

Setmelanotide: First Approval.

ALMS1 Regulates TGF-β Signaling and Morphology of Primary Cilia.

How are patients with rare diseases and their carers in the UK impacted by the way care is coordinated? An exploratory qualitative interview study.

Alström syndrome: an ultra-rare monogenic disorder as a model for insulin resistance, type 2 diabetes mellitus and obesity.

[Analysis of ALMS1 gene variants in seven patients with Alström syndrome].

Liver Transplantation in Alstrom Syndrome: A Case Report.

A Rare Case of Severe Dilated Cardiomyopathy in Early Infancy.

Adipose Tissue Malfunction Drives Metabolic Dysfunction in Alström Syndrome.

Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alström syndrome.

A rare case of pediatric cardiomyopathy: Alström syndrome identified by gene panel analysis.

Generation of an induced pluripotent stem cell line from an Alström Syndrome patient with ALMS1 mutation (c.3902C > A, c.6436C > T) and a gene correction isogenic iPSC line.

Very high bone mineral density in a monogenic form of obesity-associated insulin resistance.

Genetic Determinants of Childhood Obesity.

Relative Adipose Tissue Failure in Alström Syndrome Drives Obesity-Induced Insulin Resistance.

Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation.

Alstrom syndrome gene is a stem-cell-specific regulator of centriole duplication in the Drosophila testis.

Consensus clinical management guidelines for Alström syndrome.

A novel variant in ALMS1 in a patient with Alström syndrome and prenatal diagnosis for the fetus in the family: A case report and literature review.

Ocular evaluation and genetic test for an early Alström Syndrome diagnosis.

A very early diagnosis of Alstrӧm syndrome by next generation sequencing.

Association between ALMS 1 variants and early-onset coronary artery disease: a case-control study in Chinese population.

Bardet-Biedl syndrome: Weight patterns and genetics in a rare obesity syndrome.

Western Diet Promotes Renal Injury, Inflammation, and Fibrosis in a Murine Model of Alström Syndrome.

Prospective cardiovascular magnetic resonance imaging in adults with Alström syndrome: silent progression of diffuse interstitial fibrosis.

Cilia signaling and obesity.

Bardet-Biedl syndrome and related disorders in Japan.

Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alström syndrome.

Cochlear Implants in Alström Syndrome.

Cochlear implantation and mastoid obliteration in a patient with Alström Syndrome.

Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients.

Nystagmus with pendular low amplitude, high frequency components (PLAHF) in association with retinal disease.

MetAP2 inhibition reduces food intake and body weight in a ciliopathy mouse model of obesity.

A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants.

Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome.

Whole exome sequencing identified two homozygous ALMS1 mutations in an Iranian family with Alström syndrome.

[Screening for ocular involvement in deaf children].

Primary Cilium, An Unsung Hero in Maintaining Functional β-cell Population.

In vivo phenotypic and molecular characterization of retinal degeneration in mouse models of three ciliopathies.

Tracing the effect of the melanocortin-4 receptor pathway in obesity: study design and methodology of the TEMPO registry.