Alström syndrome: an ultra-rare monogenic disorder as a model for insulin resistance, type 2 diabetes mellitus and obesity
Sign Up to like & getrecommendations! Published in 2021 at "Endocrine"
DOI: 10.1007/s12020-021-02643-y
Abstract: Alström syndrome (ALMS) is a monogenic ultra-rare disorder with a prevalence of one per million inhabitants caused by pathogenic variants of ALMS1 gene. ALMS1 is located on chromosome 2p13, spans 23 exons and encodes a… read more here.
Keywords: insulin; ultra rare; alstr syndrome; type diabetes ... See more keywords
The Role of Ultra-Rare Coding Variants In ADHD
Sign Up to like & getrecommendations! Published in 2019 at "European Neuropsychopharmacology"
DOI: 10.1016/j.euroneuro.2017.06.042
Abstract: Abstract Attention-Deficit Hyperactivity Disorder (ADHD) is a highly heritable childhood behavioural disorder affecting 3-6% of school-age children, and has a heritability of around 0.80. The SNP heritability, estimating the amount of risk attributed to common… read more here.
Keywords: ultra rare; adhd cases; role; variants adhd ... See more keywords
Identification of ultra-rare disruptive variants in voltage-gated calcium channel-encoding genes in Japanese samples of schizophrenia and autism spectrum disorder
Sign Up to like & getrecommendations! Published in 2022 at "Translational Psychiatry"
DOI: 10.1038/s41398-022-01851-y
Abstract: Several large-scale whole-exome sequencing studies in patients with schizophrenia (SCZ) and autism spectrum disorder (ASD) have identified rare variants with modest or strong effect size as genetic risk factors. Dysregulation of cellular calcium homeostasis might… read more here.
Keywords: ultra rare; channel; gated calcium; autism spectrum ... See more keywords
Renal-Hepatic-Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of pediatric genetics"
DOI: 10.1055/s-0039-1696974
Abstract: Renal-hepatic-pancreatic dysplasia-1 (RHPD1) is an ultra-rare genetic disorder with a high mortality. It is caused by biallelic pathogenic variants in NPHP3 , which encode nephrocytin, an important component of the ciliary protein complex. The NPHP3… read more here.
Keywords: renal hepatic; ultra rare; pancreatic dysplasia; hepatic pancreatic ... See more keywords
Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities for ultra-rare inherited bleeding disorders
Sign Up to like & getrecommendations! Published in 2023 at "Expert Review of Hematology"
DOI: 10.1080/17474086.2023.2175661
Abstract: ABSTRACT Background Ultra-rare inherited bleeding disorders (BDs) present important challenges for generating a strong evidence foundation for optimal diagnosis and management. Without disorder-appropriate treatment, affected individuals potentially face life-threatening bleeding, delayed diagnosis, suboptimal management of… read more here.
Keywords: rare inherited; inherited bleeding; ultra rare; bleeding disorders ... See more keywords
An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case report
Sign Up to like & getrecommendations! Published in 2022 at "BMC Pediatrics"
DOI: 10.1186/s12887-022-03143-2
Abstract: Background Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) is an ultra-rare genetic condition that belongs to the group of spondyloepimetaphyseal dysplasias. It is caused due to presence of biallelic variants in the EXTL3 gene. The encoded… read more here.
Keywords: ultra rare; extl3 gene; patient; case ... See more keywords
Novel and ultra-rare damaging variants in neuropeptide signaling are associated with disordered eating behaviors
Sign Up to like & getrecommendations! Published in 2017 at "PLoS ONE"
DOI: 10.1371/journal.pone.0181556
Abstract: Objective Eating disorders develop through a combination of genetic vulnerability and environmental stress, however the genetic basis of this risk is unknown. Methods To understand the genetic basis of this risk, we performed whole exome… read more here.
Keywords: binge eating; ultra rare; novel damaging; variants neuropeptide ... See more keywords
Transcription regulators and ultra-rare and other rare translocation-related sarcomas treated with trabectedin: A proof of principle from a post-hoc analysis
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2022.1042479
Abstract: Background Among sarcomas, which are rare cancers with an incidence of 24 months. Nine patients had at least one grade 3/4 adverse event, mostly being bone marrow toxicity (n=6). Conclusions Trabectedin has some anti-tumor activity… read more here.
Keywords: sarcoma; related sarcomas; ultra rare; translocation related ... See more keywords
An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: Duchenne Muscular Dystrophy in a Female Patient
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms232113076
Abstract: Duchenne muscular dystrophy (DMD) is the most common inherited muscle dystrophy. Patients are characterized by muscle weakness, gross motor delay, and elevated serum creatinine kinase (CK) levels. The disease is caused by mutations in the… read more here.
Keywords: duchenne muscular; dystrophy; manifestation; ultra rare ... See more keywords