KEGG   VARIANT: 7471v1
Entry
7471v1                      Variant                                
Name
WNT1 mutation
Type
Loss of function
Gene
WNT1  Wnt family member 1 [KO:K03209]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 164820
Network
nt06505  WNT signaling
Disease
H00506  Osteogenesis imperfecta
H01593  Osteoporosis
Reference
  Authors
Martinez-Gil N, Ugartondo N, Grinberg D, Balcells S
  Title
Wnt Pathway Extracellular Components and Their Essential Roles in Bone Homeostasis.
  Journal
Genes (Basel) 13:138 (2022)
DOI:10.3390/genes13010138
Reference
  Authors
Huybrechts Y, Mortier G, Boudin E, Van Hul W
  Title
WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders.
  Journal
Front Endocrinol (Lausanne) 11:165 (2020)
DOI:10.3389/fendo.2020.00165
Reference
  Authors
Etich J, Rehberg M, Eckes B, Sengle G, Semler O, Zaucke F
  Title
Signaling pathways affected by mutations causing osteogenesis imperfecta.
  Journal
Cell Signal 76:109789 (2020)
DOI:10.1016/j.cellsig.2020.109789
Reference
  Authors
Besio R, Chow CW, Tonelli F, Marini JC, Forlino A
  Title
Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes.
  Journal
FEBS J 286:3033-3056 (2019)
DOI:10.1111/febs.14963
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