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Pde3A Mutations Cause Autosomal Dominant Hypertension with Brachydactyly
(Nature Publishing Group, 2015)
Cardiovascular disease is the most common cause of death worldwide, and hypertension is the major risk factor(1). Mendelian hypertension elucidates mechanisms of blood pressure regulation. Here we report six missense ...
Recessive Ttn Truncating Mutations Define Novel Forms of Core Myopathy with Heart Disease
(Oxford Univ Press, 2014)
Core myopathies (CM), the main non-dystrophic myopathies in childhood, remain genetically unexplained in many cases. Heart disease is not considered part of the typical CM spectrum. No congenital heart defect has been ...
Molecular Approaches To Diagnose Diamond-Blackfan Anemia: The Eurodba Experience
(Elsevier Science Bv, 2018)
Diamond-Blackfan anemia (DBA) is a rare congenital erythroblastopenia and inherited bone marrow failure syndrome that affects approximately seven individuals in every million live births. In addition to anemia, about 50% ...
Mutations In Arfgef2 Implicate Vesicle Trafficking In Neural Progenitor Proliferation And Migration In The Human Cerebral Cortex
(Nature Publishing Group, 2004)
Disruption of human neural precursor proliferation can give rise to a small brain ( microcephaly), and failure of neurons to migrate properly can lead to an abnormal arrest of cerebral cortical neurons in proliferative ...
Mutations In Klhl40 Are A Frequent Cause Of Severe Autosomal-Recessive Nemaline Myopathy
(Cell Press, 2013)
Nemaline myopathy (NEM) is a common congenital myopathy. At the very severe end of the NEM clinical spectrum are genetically unresolved cases of autosomal-recessive fetal akinesia sequence. We studied a multinational cohort ...
Mutations In The Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis And Infantile Systemic Hyalinosis
(Univ Chicago Press, 2003)
Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are autosomal recessive conditions characterized by multiple subcutaneous skin nodules, gingival hypertrophy, joint contractures, and hyaline ...
A Phenocopy of Caii Deficiency: A Novel Genetic Explanation for Inherited Infantile Osteopetrosis with Distal Renal Tubular Acidosis
(British Med Journal Publ Group, 2003)
The rare bone thickening disease osteopetrosis occurs in various forms, one of which is accompanied by renal tubular acidosis (RTA), and is known as Guibaud-Vainsel of this autosomal recessive syndrome comprise oncreased ...
The Mutational Spectrum Of Human Malignant Autosomal Recessive Osteopetrosis
(Oxford Univ Press, 2001)
Human malignant infantile osteopetrosis (arOP; MIM 259700) is a genetically heterogenous autosomal recessive disorder of bone metabolism, which, if untreated, has a fatal outcome. Our group, as well as others, have recently ...
Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing (Rdrta2) to 7Q33-34
(Univ Chicago Press, 1999)
Failure of distal nephrons to excrete excess acid results in the "distal renal tubular acidoses" (dRTA). Early childhood features of autosomal recessive dRTA include severe metabolic acidosis with inappropriately alkaline ...
Mutations In Keops-Complex Genes Cause Nephrotic Syndrome With Primary Microcephaly
(Nature Publishing Group, 2017)
Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain anomalies. Here we identified recessive mutations in ...