Listar por autor "Zhang, Wenjuan"

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Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia.

Barad, Maya; Csukasi, Fabiana; Kunova-Bosakova, Michaela; Martin, Jorge H.; Zhang, Wenjuan; Taylor, Paige; Lachman, Ralph; Zieba, Jennifer; Bamshad, Michael; Nickerson, Deborah; Chong, Jessica X; Cohn, Daniel H; Krejci, Pavel; Krakow, Deborah; Duran, Ivan[et al.] (Elsevier, 2020-11-23)

Background Beyond its structural role in the skeleton, the extracellular matrix (ECM), particularly basement membrane proteins, facilitates communication with intracellular signaling pathways and cell to cell interactions ...
Dominant-negative SOX9 mutations in campomelic dysplasia.

Csukasi, Fabiana; Duran, Ivan; Zhang, Wenjuan; Martin, Jorge H.; Barad, Maya; Bamshad, Michael; Weis, Mary Ann; Eyre, David; Krakow, Deborah; Cohn, Daniel H.[et al.] (Wiley, 2019-08-07)

Campomelic dysplasia (CD) is an autosomal dominant, perinatal lethal skeletaldysplasia characterized by a small chest and short long bones with bowing of thelower extremities. CD is the result of heterozygosity for mutations ...