Yao-Hua Zhang

发表

LXXLL motifs and AF-2 domain mediate SHP (NR0B2) homodimerization and DAX1 (NR0B1)-DAX1A heterodimerization.

E. McCabe, A. Iyer, Yao-Hua Zhang, 2007, Molecular genetics and metabolism.

Dosage-sensitive sex reversal adrenal hypoplasia congenita critical region on the X chromosome, gene 1 (DAX1) (NR0B1) and small heterodimer partner (SHP) (NR0B2) form homodimers individually, as well as DAX1-SHP heterodimers.

E. McCabe, A. Iyer, Yao-Hua Zhang, 2006, Molecular endocrinology.

Molecular genetic confirmatory testing from newborn screening samples for the common African‐American, Asian Indian, Southeast Asian, and Chinese β‐thalassemia mutations

E. McCabe, U. Bhardwaj, L. Mccabe, 2005, American journal of hematology.

Asymptomatic Isolated Human Glycerol Kinase Deficiency Associated with Splice-Site Mutations and Nonsense-Mediated Decay of Mutant RNA

E. McCabe, K. Dipple, H. Northrup, 2006, Pediatric Research.

Nucleophosmin 1 is a prognostic marker of gastrointestinal cancer and is associated with m6A and cuproptosis

Y. Zhang, Yu Zhang, Yan-hong Gao, 2022, Frontiers in Pharmacology.

IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1

K. Niakan, E. McCabe, K. Dipple, 2004, Human mutation.

Human and murine glycerol kinase: influence of exon 18 alternative splicing on function.

E. McCabe, K. Dipple, R. Ohira, 2005, Biochemical and biophysical research communications.

Neonatal hemoglobinopathy screening: molecular genetic technologies.

E. McCabe, U. Bhardwaj, Yao-Hua Zhang, 2003, Molecular genetics and metabolism.

Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays

S. Nelson, Zugen Chen, E. McCabe, 2007, Human mutation.

Gestational diabetes associated with a novel mutation (378–379insTT) in the glycerol kinase gene

E. McCabe, K. Dipple, J. V. Van Hove, 2015, Molecular genetics and metabolism reports.

A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female.

J. Phelan, E. McCabe, G. Kletter, 2006, Molecular genetics and metabolism.

NR0B1A: an alternatively spliced form of NR0B1.

E. McCabe, Yao-Hua Zhang, J. Ho, 2004, Molecular genetics and metabolism.