СИНДРОМЫ.
НАСЛЕДСТВЕННЫЕ БОЛЕЗНИ
(латиница)
A
PROGRESSIVE SUPRANUCLEAR PALSY-LIKE SYNDROME
MOLECULAR CAUSES
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Mutations in bassoon
PANCREATITIS ACUTE
MOLECULAR CAUSES
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Calmodulin
POLYDACTYLY
MOLECULAR CAUSES
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Affinity-optimizing enhancer variants disrupt development(polydactyly)
PPANCREATIC DUCTAL ADENOCARCINOMA (PDAC)
3D ORGANOIDS
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Pancreas 3D Organoids: as a Research Platform for Pancreatic Cancer
PARKINSON's DISEASE
ANIMAL MODELS
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RNAi tyrosine hydroxylase
BIOCHEMICAL PATHWAYS
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alpha-synuclein
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Role of COX2
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Role of C-terminal calcium binding of α-synuclein
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Role of Synaptic vesicle glycoprotein 2C
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miRNome-Wide Profiling in a Neuronal Cell Model of Synucleinopathy Implies Involvement of Cell Cycle Genes
THEORY
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Description
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"Threshold theory"
Fe role
MITOCHONDRIAL DYSFUNCTION
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Mitochondrial DNA changes cholinergic neurons
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Role
pink1
and
parkin
MOTOR DEFICITS
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Endocannabinoids and striatal LTD
PNH
PATELLAR CONGENITAL ANOMALIES
SYNDROMS
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Genetics
PERITONEAL MESOTHELIOMA
GENETICS
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ALK Rearrangemen
PLACENTATION DEFECTS
GENETICS
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Embryonic lethal mouse mutants
POLYDACTYLY
GENETICS AND CLASSIFICATION
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Phenotypes
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Role of Gata6-Dependent GLI3 Repressor Function
ANIMAL MODEL
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Gli3 and Alx4
POLYCYSTIC KIDNEY DISEASE
Cilia-dependent pathway
Somatic and germline mosaicism
POMPE DISEASE
mTOR signaling as a strategy for the treatment of Pompe disease
Pompe disease
Pre-eclampsia
PPH
PRIMARY IMMUNODEFICIENCY DISEASES
GENOME-WIDE ASSOCIATION STUDY
Application of induced pluripotent stem cells to primary immunodeficiency diseases
PRIMARY SCLEROSING CHOLANGITIS
INDUCED PLURIPOTENT STEM CELLS
New risk loci
PRION DISEASE
Diagnosis and Therapy
◊
Polycystic Kidney Disease 1(PKD1)
PROGERIA SYNDROMES
PREMATURE AGEING
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Genetic mechanisms
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Nestor–Guillermo progeria
PROGRANULIN IN DISEASES
MECHANISMS
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Progranulin a therapeutic target for multiple diseases
PROLAPSE MITRAL VALVE
GENETUICS
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GLIS1 as a Susceptibility Gene for Mitral Valve Prolapse
PSICHICAL DISEASE
NEURAL CONTOUR
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Anomaly
PULMONARY ARTERIAL HYPERTENSION
ASSOCIATED WITH HEART AND LUNG DEVELOPMENTAL DEFECTS
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Unique Pulmonary Hypertensive Vascular Diseases Associated with Heart and Lung Developmental Defects
PULMONARY VENO-OCCLUSIVE DISEASE
GENETIC MUTATIONS
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EIF2AK4