KEGG   VARIANT: 3911v1
Entry
3911v1                      Variant                                
Name
LAMA5 mutation
Type
Loss of function
Gene
LAMA5  laminin subunit alpha 5 [KO:K06240]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601033
Network
nt06548  Integrin signaling
Disease
H01657  Nephrotic syndrome
H02629  Bent bone dysplasia syndrome
Reference
  Authors
Taniguchi Y, Nagano C, Sekiguchi K, Tashiro A, Sugawara N, Sakaguchi H, Umeda C, Aoto Y, Ishiko S, Rossanti R, Sakakibara N, Horinouchi T, Yamamura T, Kondo A, Nagai S, Nagase H, Iijima K, Miner JH, Nozu K
  Title
Clear Evidence of LAMA5 Gene Biallelic Truncating Variants Causing Infantile Nephrotic Syndrome.
  Journal
Kidney360 2:1968-1978 (2021)
DOI:10.34067/KID.0004952021
Reference
  Authors
Barad M, Csukasi F, Bosakova M, Martin JH, Zhang W, Paige Taylor S, Lachman RS, Zieba J, Bamshad M, Nickerson D, Chong JX, Cohn DH, Krejci P, Krakow D, Duran I
  Title
Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia.
  Journal
EBioMedicine 62:103075 (2020)
DOI:10.1016/j.ebiom.2020.103075
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