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Toplam kayıt 66, listelenen: 51-60
Translating Biotechnology To Knowledge-Based Innovation, Peace, And Development? Deploy A Science Peace Corps-An Open Letter To World Leaders
(Mary Ann Liebert, Inc, 2014)
Scholarship knows no geographical boundaries. This science diplomacy and biotechnology journalism article introduces an original concept and policy petition to innovate the global translational science, a Science Peace ...
Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish
(Cell Press, 2012)
Bone morphogenetic protein 1 (BMP1) is an astacin metalloprotease with important cellular functions and diverse substrates, including extracellular-matrix proteins and antagonists of some TGF beta superfamily members. ...
Analysis of Centrosome and Dna Damage Response In Plk4 Associated Seckel Syndrome
(Nature Publishing Group, 2017)
Microcephalic primordial dwarfism (MPD) is a group of autosomal recessive inherited single-gene disorders with intrauterine and postnatal global growth failure. Seckel syndrome is the most common form of the MPD. Ten genes ...
Mutations Affecting The Bhlha9 Dna-Binding Domain Cause Mssd, Mesoaxial Synostotic Syndactyly With Phalangeal Reduction, Malik-Percin Type
(Cell Press, 2014)
Mesoaxial synostotic syndactyly, Malik-Percin type (MSSD) (syndactyly type IX) is a rare autosomal-recessive nonsyndromic digit anomaly with only two affected families reported so far. We previously showed that the trait ...
Mutations In Ripk4 Cause The Autosomal-Recessive Form Of Popliteal Pterygium Syndrome
(Cell Press, 2012)
The autosomal-recessive form of popliteal pterygium syndrome, also known as Bartsocas-Papas syndrome, is a rare, but frequently lethal disorder characterized by marked popliteal pterygium associated with multiple congenital ...
Identification Of Multiple Genetic Susceptibility Loci In Takayasu Arteritis
(Cell Press, 2013)
Takayasu arteritis is a rare inflammatory disease of large arteries. The etiology of Takayasu arteritis remains poorly understood, but genetic contribution to the disease pathogenesis is supported by the genetic association ...
Poly(A)-Specific Ribonuclease (Parn) Mediates 3 '-End Maturation of the Telomerase Rna Component
(Nature Publishing Group, 2015)
Mutations in the PARN gene (encoding poly(A)-specific ribonuclease) cause telomere diseases including familial idiopathic pulmonary fibrosis (IPF) and dyskeratosis congenita(1,2), but how PARN deficiency impairs telomere ...
A Comprehensive Molecular Study on Coffin-Siris And Nicolaides-Baraitser Syndromes Identifies A Broad Molecular and Clinical Spectrum Converging on Altered Chromatin Remodeling
(Oxford Univ Press, 2013)
Chromatin remodeling complexes are known to modify chemical marks on histones or to induce conformational changes in the chromatin in order to regulate transcription. Denovodominant mutations in different members of the ...
The Effect of Serum and Follicular Fluid Amyloid-Associated Protein Levels on in Vitro Fertilization Outcome in Patients with Polycystic Ovary Syndrome
(Springer/Plenum Publishers, 2015)
In this study, we aimed to investigate serum and follicular fluid amyloid A protein levels in non-obese non-hyperandrogenic patients with polycystic ovary syndrome (PCOS) undergoing in vitro fertilization (IVF) and IVF ...
Pretransplant Mobilization With Granulocyte Colony-Stimulating Factor Improves B-Cell Reconstitution by Lentiviral Vector Gene Therapy In Scid-X1 Mice
(Mary Ann Liebert, Inc, 2014)
Hematopoietic stem cell (HSC) gene therapy is a demonstrated effective treatment for X-linked severe combined immunodeficiency (SCID-X1), but B-cell reconstitution and function has been deficient in many of the gene therapy ...