Nan Zhou

PP2B and PP1α cooperatively disrupt 7SK snRNP to release P-TEFb for transcription in response to Ca²⁺signaling

Ruichuan Chen, Min Liu, Huan Li et al. · Genes & Development · 2008 · 162 citations · Full text

Clinical spectrum of <i>SIX3</i>-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

Felicitas Lacbawan, Benjamin D. Solomon, Erich Roessler et al. · Journal of Medical Genetics · 2009 · 98 citations · Full text

The mutational spectrum of holoprosencephaly-associated changes within the<i>SHH</i>gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

Erich Roessler, Kênia Balbi El-Jaick, Christèle Dubourg et al. · Human Mutation · 2009 · 86 citations · Full text

Genetics, Disease Gene Identification, Signaling Pathway +17

The full spectrum of holoprosencephaly-associated mutations within the<i>ZIC2</i>gene in humans predicts loss-of-function as the predominant disease mechanism

Erich Roessler, Felicitas Lacbawan, Christ��le Dubourg et al. · Human Mutation · 2009 · 63 citations · Full text

Genetics, Immunodeficiencies, Genetic Epidemiology +18

Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly

Ute Hehr, Daniel Pineda‐Alvarez, Goekhan Uyanik et al. · Human Genetics · 2010 · 62 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +8