Annotations with associated genes, phenotypes and epidemiological data. An encyclopedia of rare diseases in nine languages. An inventory of orphan drugs at all stages of development, from orphan designation to European market authorization. A directory of specialised services, providing information on ex...
Annotations with associated genes, phenotypes and epidemiological data. Anencyclopedia of rare diseasesin nine languages. Aninventory of orphan drugsat all stages of development, from orphan designation to European market authorization. A directory of specialised services, providing information onexpert clini...
The genetic architecture of autism is complex and highly heterogeneous, and the allelic spectrum influencing the variability of traits is a key component of it3. Over the past decade, the genetic architecture of ASD has become clearer, and numerous risk variants and ASD-related genes have been i...
Many RVs were found in genes associated with T2D and known MODY genes, such as the ATP-sensitive inward rectifier potassium channel 11 gene (KCNJ11, MODY-13) on chromosome 11, the sulfonylurea receptor gene (ABCC8, MODY-12) also on chromosome 11, and the hepatocyte nuclear factor 4 alpha ...
We investigated the association between the rare variants of the glutamate receptor genes and the outcomes of PER use. Result: A total of 83 patients were collected. The gene group burden analysis showed that enriched genetic variants of the glutamate receptor gene group were statistically ...
The company focuses on finding data on the neurodegeneration process and how genes affect the same. In September 2021, Neuroglee Therapeutics, a digital therapeutics start-up for people affected with neurodegenerative diseases announced that it had raised US$ 10 million in a Series A finance round...
It is due to somatic activating mutations in guanine nucleotide-binding protein alpha-q or alpha-11 subunit encoded by GNAQ and GNA11 genes located on chromosome 9q21 and 19p13, respectively [1, 2]. It occurs in 1 in 20,000 to 1 in 50,000 live births and is characterized by at ...
Additionally, they upregulate genes and other co-stimulatory molecules that enhance T cell response(s), which serve a critical anti-tumor role [49]. On the other hand, M2 macrophages have a role in normal immune function and homeostasis, such as stimulating Th2 cells, eliminating parasites, ...
and the Global Genes RARE Global Advocacy Leadership Council; AC: Trustee of The Radi- ant Hope Foundation, Trustee of the Ian Cali FOP Research Fund/Penn Medicine, Co-founder and Advisory Board member of the Tin Soldiers Patient Identification Program, Executive Producer of the Tin Soldiers docu...
Genes (Basel). 2021;12(9). Gnanasekaran H, Chandrasekhar SP, Kandeeban S, Periyasamy P, Bhende M, Khetan V, et al. Mutation profile of Bardet-Biedl syndrome patients from India: implicative role of multiallelic rare variants and oligogenic inheritance pattern. Clin Genet. 2023;104(4):...