Circ Genom Precis Med 2020 Jan 31
LZTR1-related Hypertrophic Cardiomyopathy without Typical Noonan Syndrome Features.
Jenkins J, Barnes A, Birnbaum BF, Papagiannis J, Thiffault I, Saunders CJ
Biallelic variants in LZTR1 were recently reported to be associated with autosomal recessive Noonan syndrome (NS), with a phenotypic spectrum ranging ...
Read More
Source: PubMed
Blood Rev. 2020 Jan 16
After 95?years, it's time to eRASe JMML.
Meynier S, Rieux-Laucat F
Juvenile myelomonocytic leukaemia (JMML) is a rare clonal disorder of early childhood. Constitutive activation of the RAS pathway is the initial event ...
Read More
Source: PubMed
J Pediatr Genet
De Novo Duplication of Chromosome 9p in a Female Infant: Phenotype and Genotype Correlation.
Leone PE, Pérez-Villa A, Yumiceba V, Hernández MÁ, García-Cárdenas JM, Armendáriz-Castillo I, Guerrero S, Guevara-Ramírez P, López-Cortés A, Zambrano AK, García JL, Hernández JM, Paz-Y-Miño C
Trisomy 9p syndrome is the fourth most frequent chromosome aberration seen in infants. Duplication of the critical region 9p22p24 leads to mental reta ...
Read More
Source: PubMed
Semin. Thorac. Cardiovasc. Surg. 2020 Jan 17
Surgical repair of peripheral pulmonary artery stenosis in patients without williams or alagille syndromes.
Martin E, Mainwaring RD, Collins RT, MacMillen KL, Hanley FL
Peripheral pulmonary artery stenosis (PPAS) is a relatively rare form of congenital heart disease typically associated with genetic syndromes, such as ...
Read More
Source: PubMed
J. Biol. Chem. 2020 Jan 17
A cellular target engagement assay for the characterization of SHP2 (PTPN11) phosphatase inhibitors.
Romero C, Lambert LJ, Sheffler DJ, De Backer LJ, Raveendra-Panickar D, Celeridad M, Grotegut S, Rodiles S, Holleran J, Sergienko E, Pasquale EB, Cosford NDP, Tautz L
The non-receptor protein tyrosine phosphatase (PTP) SHP2 is encoded by the proto-oncogene PTPN11 and is a ubiquitously expressed key regulator of cell ...
Read More
Source: PubMed
