Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation

Journal of medical genetics

Volumn 51, Issue 9, 2014, Pages 623-634

  Nguyen, Ngoc M inh Phuong ^a   Zhang, Li ^a   Reddy, Ramesh ^a   Déry, Christine ^a   Arseneau, Jocelyne ^a   Cheung, Annie ^a   Surti, Urvashi ^a   Hoffner, Lori ^a   Seoud, Muhieddine ^a   Zaatari, Ghazi ^a   Bagga, Rashmi ^a   Srinivasan, Radhika ^a   Coullin, Philippe ^a   Ao, Asangla ^a   Slim, Rima ^a  

^a UNIVERSITY OF PITTSBURGH   (United States)

Author keywords

CDKN1C (p57KIP2); hydatidiform mole; NLRP7; tissue differentiation; trophoblastic proliferation

Indexed keywords

CDKN1C PROTEIN, HUMAN; CYCLIN DEPENDENT KINASE INHIBITOR 1C; MICROSATELLITE DNA; NLRP7 PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

CELL DIFFERENTIATION; CELL PROLIFERATION; DNA MUTATIONAL ANALYSIS; FEMALE; FLOW CYTOMETRY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION REGULATION; GENETICS; GENOME IMPRINTING; GENOTYPE; HUMAN; HYDATIDIFORM MOLE; IMMUNOHISTOCHEMISTRY; METABOLISM; MISSENSE MUTATION; PHYSIOLOGY; PREGNANCY; TROPHOBLAST;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CELL DIFFERENTIATION; CELL PROLIFERATION; CYCLIN-DEPENDENT KINASE INHIBITOR P57; DNA MUTATIONAL ANALYSIS; FEMALE; FLOW CYTOMETRY; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENOMIC IMPRINTING; GENOTYPE; HUMANS; HYDATIDIFORM MOLE; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION, FLUORESCENCE; MICROSATELLITE REPEATS; MUTATION, MISSENSE; PREGNANCY; TROPHOBLASTS;

EID: 85003048322     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102546     Document Type: Article

References (0)