Browsing Centro de Biología Integrativa (CBI) by Subject "Biochemistry & Molecular Biology; Genetics & Heredity"

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Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility

Woehlbier, Ute [Univ Mayor, Ctr Integrat Biol, Fac Sci, Santiago, Chile]; Yildirim, Yeserin; Ouriachi, Toufik; Ouahioune, Wahiba; Balkan, Mahmut; Malik, Sajid; Tolun, Aslihan (NATURE PUBLISHING GROUP, 2018)

In affected members of a consanguineous family, a syndrome, which is concurrence of set of medical signs, is often observed and commonly assumed to have arisen from pleiotropy, i.e., the phenomenon of a single gene variant ...
The inhibition of CTGF/CCN2 activity improves muscle and locomotor function in a murine ALS model

Court, Felipe A. [Univ Mayor, Ctr Integrat Biol, Fac Sci, Santiago, Chile]; González, David; Rebolledo, Daniela L.; Correa, Lina M.; Cerpa, Waldo; Lipson, Kenneth E.; van Zundert, Brigitte; Brandan, Enrique (OXFORD UNIV PRESS, 2018)

Amyotrophic lateral sclerosis (ALS) is a devastating adult-onset progressive neurodegenerative disease characterized by upper and lower motoneuron degeneration. A total of 20% of familial ALS (fALS) cases are explained by ...