Search Results - "Macchiarulo, Stephania"

Tbx1 and Jag1 act in concert to modulate the fate of neurosensory cells of the mouse otic vesicle by Macchiarulo, Stephania, Morrow, Bernice E

“…The domain within the otic vesicle (OV) known as the neurosensory domain (NSD), contains cells that will give rise to the hair and support cells of the otic…”
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Specific recruitment of protein kinase A to the immunoglobulin locus regulates class-switch recombination by Irimia, Cristina, Lee, Mieun, Chaudhuri, Jayanta, Vuong, Bao Q, McKnight, G Stanley, Kabir, Shaheen, Macchiarulo, Stephania

“…Immunoglobulin class-switch recombination requires activation-induced cytidine deaminase. Chaudhuri and colleagues show independent recruitment of protein…”
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GABAergic neuron deficit as an idiopathic generalized epilepsy mechanism: the role of BRD2 haploinsufficiency in juvenile myoclonic epilepsy by Velíšek, Libor, Shang, Enyuan, Velíšková, Jana, Chachua, Tamar, Macchiarulo, Stephania, Maglakelidze, Giorgi, Wolgemuth, Debra J, Greenberg, David A

“…Idiopathic generalized epilepsy (IGE) syndromes represent about 30% of all epilepsies. They have strong, but elusive, genetic components and sex-specific…”
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Tbx1 is required autonomously for cell survival and fate in the pharyngeal core mesoderm to form the muscles of mastication by Kong, Ping, Racedo, Silvia E, Macchiarulo, Stephania, Hu, Zunju, Carpenter, Courtney, Guo, Tingwei, Wang, Tao, Zheng, Deyou, Morrow, Bernice E

“…Velo-cardio-facial/DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a congenital anomaly disorder characterized by craniofacial anomalies…”
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Investigation into the roles of Tbx1 and Jag1 in mouse embryogenesis by Macchiarulo, Stephania

“…Tbx1 encodes a T-box transcription factor whose haploinsufficiency is responsible for many of the anomalies seen in the human congenital disorder, 22g11.2…”
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Specific recruitment of protein kinase A to the immunoglobulin locus regulates classs-witch recombination by Vuong, Bao Q, Lee, Mieun, Kabir, Shaheen, Irimia, Cristina, Macchiarulo, Stephania, McKnight, G. Stanley, Chaudhuri, Jayanta

“…Immunoglobulin class-switch recombination (CSR) requires activation-induced cytidine deaminase (AID). Deamination of DNA by AID in transcribed switch (S)…”
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