WebTargeted Mutation Analysis for a Known Familial Variant Known Familial Variant Analysis N/A 81228,81229, S3870 Chromosomal Microarray, Congenital, Blood (Mayo ... 81405 SPRED1 Sequencing SPRED1 Deletion/Duplication SPRED1 Sequencing and/or Deletion/Duplication Analysis L81.3, Z82.79, Z84 WebSPRED1 is a member of the SPROUTY/SPRED family of proteins that act as negative regulators of RAS-RAF interaction and mitogen-activated protein kinase (MAPK) signaling. The DNA-based NF1/SPRED1-only by NGS involves sequencing as well as deletion/duplication analysis of the entire coding NF1 region plus the alternatively spliced …
CANCER Human tumor genomics and zebrafish modeling identify …
WebConstitutional heterozygous loss-of-function mutations in the SPRED1 gene cause a phenotype known as Legius syndrome, which consists of symptoms of multiple café-au-lait macules, axillary freckling, learning disabilities, and macrocephaly. Legius syndrome resembles a mild neurofibromatosis type 1 (NF1) phenotype. It has been demonstrated … WebMutations in the SPRED1 gene cause Legius syndrome, a condition characterized by multiple café-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. Several mutations have been identified throughout the SPRED1 gene. infant acetaminophen dosage 2015
SPRED1 Gene - GeneCards SPRE1 Protein SPRE1 …
Web7 Mar 2016 · Takei H, Edahiro Y, Mano S, Masubuchi N, Mizukami Y, Imai M, Morishita S, Misawa K, Ochiai T, Tsuneda S, Endo H, Nakamura S, Eto K, Ohsaka A, Araki M, Komatsu N.Skewed megakaryopoiesis in human induced pluripotent stem cell‐derived haematopoietic progenitor cells harbouring calreticulin mutations.British journal of Haematology. 2024 … The following mutations have been observed: • An exon 3 c.46C>T mutation leading to p.Arg16Stop. This mutation may result in a truncated nonfunctional protein. Blast cells analysis displayed the same abnormality as germline mutation with one mutated allele (no somatic SPRED1 single-point mutation or loss of heterozygosity was found). The M4/M5 phenotype of AML are most closely associated with Ras pathway mutations. … Web21 Mar 2024 · SPRED1 (Sprouty Related EVH1 Domain Containing 1) is a Protein Coding gene. Diseases associated with SPRED1 include Legius Syndrome and … logitech app g502