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

Ruichuan Chen, Min Liu, Huan Li, +8

Genes & Development

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

Felicitas Lacbawan, Benjamin D. Solomon, Erich Roessler, +43

Journal of Medical Genetics

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, +14

Human Mutation

GeneticsDisease Gene IdentificationSignaling PathwayHoloprosencephaly-associated ChangesMutational Spectrum +15

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, +10

Human Mutation

GeneticsImmunodeficienciesGenetic EpidemiologyDisease Gene IdentificationPredominant Disease Mechanism +16

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, +11

Human Genetics

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsPsychiatric Genetics +6

Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene × gene interactions

Erich Roessler, Jorge I. Vélez, Nan Zhou, +1

Molecular Genetics and Metabolism

Genetic DisorderMedicineGeneticsObserved FrequencyGene Characterization +8

Spiking Neural P Systems with Extended Channel Rules

Zeqiong Lv, Tingting Bao, Nan Zhou, +4

International Journal of Neural Systems

Beneficial effects of combination therapy of phloretin and metformin in streptozotocin-induced diabetic rats and improved insulin sensitivity <i>in vitro</i>

Xin Shen, Libin Wang, Nan Zhou, +3

Food & Function

Glucose ToleranceInsulin SignalingMetabolic SyndromeSkeletal MuscleMetabolic Signaling +16

Metformin alleviates oxidative stress‐induced senescence of human lens epithelial cells via AMPK activation and autophagic flux restoration

Mengmeng Chen, Chunmei Zhang, Nan Zhou, +3

Journal of Cellular and Molecular Medicine

A missense mutation in CRYBA4 associated with congenital cataract and microcornea.

Guangkai Zhou, Nan Zhou, Shanshan Hu, +3

PubMed