Bölüm "Tıbbi Genetik" Dahili Tıp Bilimleri Bölümü Makale Koleksiyonu için listeleme
Toplam kayıt 40, listelenen: 21-40
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Loss-Of-Function Mutations in Elmo2 Cause Intraosseous Vascular Malformation by Impeding Rac1 Signaling
(Cell Press, 2016)Vascular malformations are non-neoplastic expansions of blood vessels that arise due to errors during angiogenesis. They are a heterogeneous group of sporadic or inherited vascular disorders characterized by localized ... -
Mesoaxial Complete Syndactyly And Synostosis With Hypoplastic Thumbs: An Unusual Combination Or Homozygous Expression Of Syndactyly Type I?
(British Med Journal Publ Group, 1998)Syndactyly type I is an autosomal dominant condition with complete or partial webbing between the third and fourth fingers or the second and third toes or both. We report here a previously undescribed phenotype of severe ... -
Molecular And Clinical Spectrum Of Type I Plasminogen Deficiency: A Series Of 50 Patients
(Amer Soc Hematology, 2006)Severe type I plasminogen (PLG) deficiency has been causally linked to a rare chronic inflammatory disease of the mucous membranes that may be life threatening. Here we report clinical manifestations, PLG plasma levels, ... -
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 Anks6 Cause A Nephronophthisis-Like Phenotype With Esrd
(Amer Soc Nephrology, 2014)Nephronophthisis (NPHP) is one of the most common genetic causes of CKD; however, the underlying genetic abnormalities have been established in <50% of patients. We performed genome-wide analysis followed by targeted ... -
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 ... -
Mutations In The Very Low-Density Lipoprotein Receptor Vldlr Cause Cerebellar Hypoplasia And Quadrupedal Locomotion In Humans
(Natl Acad Sciences, 2008)Quadrupedal gait in humans, also known as Unertan syndrome, is a rare phenotype associated with dysarthric speech, mental retardation, and varying degrees of cerebrocerebellar hypoplasia. Four large consanguineous kindreds ... -
Neocentric Small Supernumerary Marker Chromosomes (Ssmc) - Three More Cases And Review Of The Literature
(Karger, 2007)Here we report on three new patients with neocentric small supernumerary marker chromosomes (sSMC) derived from chromosome 2, 13 and 15, respectively. The sSMC( 13) and sSMC( 15) had inverted duplicated shapes and the sSMC( ... -
Primary Tumor Resection For Initially Staged Iv Breast Cancer
(2019)Conventional therapy modalities for advanced breast cancer are problematic, whereas checkpoint blockade immunotherapy has been considered as a promising approach. This study aims to determine programmed death-ligand 1 ... -
Recurrent Viral Infections Associated with a Homozygous Coro1A Mutation That Disrupts Oligomerization and Cytoskeletal Association
(Mosby-Elsevier, 2016)Background: Coronin-1A (CORO1A) is a regulator of actin dynamics important for T-cell homeostasis. CORO1A deficiency causes T-B+ natural killer-positive severe combined immunodeficiency or T-cell lymphopenia with severe ... -
Sequence Analysis and Homology Modeling Suggest That Primary Congenital Glaucoma on 2P21 Results From Mutations Disrupting Either the Hinge Region or The Conserved Core Structures of Cytochrome P4501B1
(Cell Press, 1998)We recently reported three truncating mutations of the cytochrome P4501B1 gene (CYP1B1) in five families with primary congenital glaucoma (PCG) linked to the GLC3A locus on chromosome 2p21. This could be the first direct ... -
Spectrum Of Perforin Gene Mutations In Familial Hemophagocytic Lymphohistiocytosis
(Cell Press, 2001)Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disease of early childhood characterized by nonmalignant accumulation and multivisceral infiltration of activated T lymphocytes and histiocytes ... -
Speg Interacts With Myotubularin, And Its Deficiency Causes Centronuclear Myopathy With Dilated Cardiomyopathy
(Cell Press, 2014)Centronuclear myopathies (CNMs) are characterized by muscle weakness and increased numbers of central nuclei within myofibers. X-linked myotubular myopathy, the most common severe form of CNM, is caused by mutations in ... -
Spinal Muscular Atrophy Associated With Progressive Myoclonic Epilepsy Is Caused By Mutations In Asah1
(Cell Press, 2012)Spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous disease characterized by the degeneration of lower motor neurons. The most frequent form is linked to mutations in SMN1. Childhood SMA associated ... -
Splicing Defects In The Ataxia-Telangiectasia Gene, Atm: Underlying Mutations And Consequences
(Cell Press, 1999)Mutations resulting in defective splicing constitute a significant proportion (30/62 [48%]) of a new series of mutations in the ATM gene in patients with ataxia-telangiectasia (AT) that were detected by the protein-truncation ... -
Successful Ocreotide and Medium-Chain Triglyceride Therapy for Cylothorax in a Patient with Noonan Syndrome: Case Report
(Ortadogu Ad Pres & Publ Co, 2010)Noonan syndrome (NS), is an autosomal dominant disorder commonly seen in childhood and is characterized by short stature, congenital heart defects and facial abnormalities (especially in adults) along with thoracic deformity. ... -
Transcriptome Analysis Reveals Differentially Expressed Genes Between Human Primary Bone Marrow Mesenchymal Stem Cells And Human Primary Dermal Fibroblasts
(2019)Stromal cells have been widely used in biomedical research and disease modeling studies in vitro. The most commonly used types of stromal cells are mesenchymal stem cells and fibroblasts. Their cellular phenotypes and ...