TRPP: TRPP (Transient Receptor Potential Polycystic) is a family of transient receptor potential ion channels which when mutated can cause polycystic kidney disease.Polycystic kidney diseasePKD domain: B:353–424 A:1363–1442 A:1363–1442Fibrocystin: Fibrocystin is a large, =) receptor-like protein that is thought to be involved in the tubulogenesis and/or maintenance of duct-lumen architecture of epithelium.Infertility in polycystic ovary syndrome: Polycystic ovary disease (PCOS) is a hormonal imbalance in women that is thought to be one of the leading causes of female infertility.Palacio JR et,al.Iridogoniodysgenesis, dominant type: Iridogoniodysgenesis, dominant type (type 1, IRID1) refers to a spectrum of diseases characterized by malformations of the irido-corneal angle of the anterior chamber of the eye. Iridogoniodysgenesis is the result of abnormal migration or terminal induction of neural crest cells.Kidney: The kidneys are bean-shaped organs that serve several essential regulatory roles in vertebrates. They remove excess organic molecules from the blood, and it is by this action that their best-known function is performed: the removal of waste products of metabolism.Median mandibular cyst: A median mandibular cyst is a type of cyst that occurs in the midline of the mandible, thought to be created by proliferation and cystic degeneration of resting epithelial tissue that is left trapped within the substance of the bone during embryologic fusion of the two halves of the mandible, along the plane of fusion later termed the symphysis menti. A ture median mandibular cyst would therefore be classified as a non-odontogenic, fissural cyst.Pedigree chart: A pedigree chart is a diagram that shows the occurrence and appearance or phenotypes of a particular gene or organism and its ancestors from one generation to the next,pedigree chart Genealogy Glossary -, a part of The New York Times Company.Metachronal rhythm: A metachronal rhythm or metachronal wave refers to wavy movements produced by the sequential action (as opposed to synchronized) of structures such as cilia, segments of worms or legs. These movements produce the appearance of a travelling wave.Joubert syndromeSilent mutation: Silent mutations are mutations in DNA that do not significantly alter the phenotype of the organism in which they occur. Silent mutations can occur in non-coding regions (outside of genes or within introns), or they may occur within exons.Genetic linkage: Genetic linkage is the tendency of alleles that are located close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction. Genes whose loci are nearer to each other are less likely to be separated onto different chromatids during chromosomal crossover, and are therefore said to be genetically linked.Hyperandrogenism: Hyperandrogenism, or androgen excess, is a medical condition characterized by excessive levels of androgens in the body and the associated effects of these excessive levels of androgens.Chronic allograft nephropathy: Chronic allograft nephropathy, abbreviated CAN and also known as sclerosing/chronic allograft nephropathy, is the leading cause of kidney transplant failure and happens month to years after the transplant.Nathan W. LevinPhenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.American Association for the Study of Liver Diseases: The American Association for the Study of Liver Diseases (AASLD) is the leading organization of scientists and health care professionals committed to preventing and curing liver disease. AASLD was founded in 1950 by a small group of leading liver specialists (including Hans Popper, Leon Schiff, Fred Hoffbauer, Cecil Watson, Jesse Bollman, and Sheila Sherlock, to name a few) to bring together those who had contributed to the field of hepatology.Hirsuties coronae glandis: Hirsuties coronae glandis (also known as "hirsutoid papillomas" and "pearly penile papules") are small protuberances that may form on the ridge of the glans of the human penis. They are a harmless anatomical variation.Gross pathology: Gross pathology refers to macroscopic manifestations of disease in organs, tissues, and body cavities. The term is commonly used by anatomical pathologists to refer to diagnostically useful findings made during the gross examination portion of surgical specimen processing or an autopsy.Missense mutation: In genetics, a missense mutation (a type of nonsynonymous substitution) is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. Another type of nonsynonymous substitution is a nonsense mutation in which a codon is changed to a premature stop codon that results in truncation of the resulting protein.Coles PhillipsNeuropathy, ataxia, and retinitis pigmentosaAcademy of Medical Royal Colleges: The Academy of Medical Royal Colleges has a role to promote, facilitate and where appropriate co-ordinate the work of the Medical Royal Colleges and their Faculties for the benefit of patients and healthcare. The Academy comprises the 21 Medical Royal Colleges and Faculties in the United Kingdom and Ireland, with the Presidents of these organisations meeting regularly to agree direction.Chromosome regionsOrofaciodigital syndrome 1: Orofaciodigital syndrome 1 (OFD1), also called Papillon-League and Psaume syndrome, is an X-linked congenital disorder characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system.Lattice protein: Lattice proteins are highly simplified computer models of proteins which are used to investigate protein folding.Renal cortexOligomenorrheaTumor progression: Tumor progression is the third and last phase in tumor development. This phase is characterised by increased growth speed and invasiveness of the tumor cells.Poul Kjer: Paul Kjer, Danish ophthalmologist, studied a condition in nineteen families that was characterized by infantile optic atrophy along with a dominant inheritance mode. In 1959, the condition was named Kjer's optic neuropathy in his honor.Symmetry element: A symmetry element is a point of reference about which symmetry operations can take place. In particular, symmetry elements can be centers of inversion, axes of rotation and mirror planes.OpsismodysplasiaAlternative splicing: Alternative splicing is a regulated process during gene expression that results in a single gene coding for multiple proteins. In this process, particular exons of a gene may be included within or excluded from the final, processed messenger RNA (mRNA) produced from that gene.Membrane protein: Membrane proteins are proteins that interact with biological membranes. They are one of the common types of protein along with soluble globular proteins, fibrous proteins, and disordered proteins.Tuberous sclerosis protein: Tuberous sclerosis proteins 1 and 2, also known as TSC1 (hamartin) and TSC2 (tuberin), form a protein-complex. The encoding two genes are TSC1 and TSC2.Proximal convoluted tubule: The proximal tubule is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle.Malformative syndrome: A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).Filtration fraction: In renal physiology, the filtration fraction is the ratio of the glomerular filtration rate (GFR) to the renal plasma flow (RPF).Squamous epithelial cell: In anatomy, squamous epithelium (squama- + -ous) is that whose outermost (apical) layer consists of thin, flat cells called squamous epithelial cells. The epithelium may be composed of one layer of these cells, in which case it is referred to as simple squamous epithelium, or it may possess multiple layers, referred to then as stratified squamous epithelium.AnovulationRelcovaptanThin basement membrane diseaseFrameshift mutation: A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number of nucleotides in a DNA sequence that is not divisible by three. Due to the triplet nature of gene expression by codons, the insertion or deletion can change the reading frame (the grouping of the codons), resulting in a completely different translation from the original.Renal stone formation in space: Renal stone formation and passage during space flight can potentially pose a severe risk to crew member health and safety and could affect mission outcome. While the renal stones are routinely and successfully treated on Earth, the occurrence of these during space flight can prove to be problematic.Kidney tumour: Kidney tumours (or kidney tumors), also known as renal tumours, are tumours, or growths, on or in the kidney. These growths can be benign or malignant (cancerous).Epicanthic fold: Epicanthic fold (), epicanthal fold, epicanthus, or simply eye fold are names for a skin fold of the upper eyelid, covering the inner corner (medial canthus) of the eye. Other names for this trait include plica palpebronasalis and palpebronasal fold..IothalmatePioglitazone/metforminHypertensive nephropathyPodocin: Podocin is a protein component of the filtration slits of podocytes. Glomerular capillary endothelial cells, the glomerular basement membrane and the filtration slits function as the filtration barrier of the kidney glomerulus.Protein primary structure: The primary structure of a peptide or protein is the linear sequence of its amino acid structural units, and partly comprises its overall biomolecular structure. By convention, the primary structure of a protein is reported starting from the amino-terminal (N) end to the carboxyl-terminal (C) end.Congenital cataractCADASIL syndrome: CADASIL ("Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy") is the most common form of hereditary stroke disorder, and is thought to be caused by mutations of the Notch 3 gene on chromosome 19. The disease belongs to a family of disorders called the Leukodystrophies.Infinite alleles model: The infinite alleles model is a mathematical model for calculating genetic mutations. The Japanese geneticist Motoo Kimura and American geneticist James F.SpermatoceleThermal cyclerNephrectomyGoldberg–Shprintzen syndrome: Goldberg–Shprintzen is a condition associated with mutations in KIAA1279 gene which encodes KIF-binding protein (KBP), a protein that may interact with microtubules and actin filament. KBP may play a key role in cytoskeleton formation and neurite growth.Kennel clubGenetic heterogeneity: Genetic heterogeneity is a phenomenon in which a single phenotype or genetic disorder may be caused by any one of a multiple number of alleles or non-allele (locus) mutations.Turnpenny and Ellard, Emery's Elements of Medical Genetics, 13th Edition.Phosphoinositide 3-kinase inhibitor: A phosphoinositide 3-kinase inhibitor (PI3K inhibitor) is class of medical drug that functions by inhibiting one or more of the phosphoinositide 3-kinase enzymes, which are part of the PI3K/AKT/mTOR pathway, an important signalling pathway for many cellular functions such as growth control, metabolism and translation initiation. Within this pathway there are many components, inhibition of which may result in tumor suppression.Single-strand conformation polymorphism: Single-strand conformation polymorphism (SSCP), or single-strand chain polymorphism, is defined as conformational difference of single-stranded nucleotide sequences of identical length as induced by differences in the sequences under certain experimental conditions. This property allows sequences to be distinguished by means of gel electrophoresis, which separates fragments according to their different conformations.Gene polymorphismUnexplained infertility: Unexplained infertility is infertility that is idiopathic in the sense that its cause remains unknown even after an infertility work-up, usually including semen analysis in the man and assessment of ovulation and fallopian tubes in the woman.merckmanuals > Unexplained Infertility Last full review/revision November 2008 by Robert W.Mature messenger RNA: Mature messenger RNA, often abbreviated as mature mRNA is a eukaryotic RNA transcript that has been spliced and processed and is ready for translation in the course of protein synthesis. Unlike the eukaryotic RNA immediately after transcription known as precursor messenger RNA, it consists exclusively of exons, with all introns removed.Temporal analysis of products: Temporal Analysis of Products (TAP), (TAP-2), (TAP-3) is an experimental technique for studying