Search Results

Viewing: All

  • Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a disorder in which affected individuals
  • Renal hypouricemia is a kidney (renal) disorder that results in a reduced amount of uric acid in
  • The CEP290 gene provides instructions for making a protein that is present in many types of cells
  • Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that primarily affects
  • Renal tubular dysgenesis is a severe kidney disorder characterized by abnormal development of the
  • life.renal tubular acidosis also have blood cell
  • Renal tubular acidosis with deafness is a disorder characterized by kidney (renal) problems and
  • Action myoclonus–renal failure (AMRF) syndrome causes episodes of involuntary muscle jerking or
  • of proteins) within cells. Excess cystine damages cells and often forms crystals that can build up
  • mucin 1 relays signals from outside the cell to the cell's nucleus. Through this cellular signaling
  • and delayed development of motor skills such as sitting, standing, and walking.renal
  • result, cells lining the renal tubules may grow and divide abnormally, leading to the growth of numerous
  • transmitting chemical signals from outside the cell to the cell's nucleus. The two proteins work together to
  • is produced in bone cells. This protein is necessary in regulating the phosphate levels within the
  • called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and
  • urine. Specifically, nephrin is found in cells called podocytes, which are located in specialized kidney
  • chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder
  • provide instructions for making the proteins hamartin and tuberin, respectively. Within cells, these two
  • general weakness, and extreme tiredness (fatigue). Nephronophthisis leads to end-stage renal disease (ESRD
  • genes). These genes are known or suspected to play critical roles in cell structures called cilia. Cilia
  • translocation t(2;3)(q33;q21) is associated with familial clear cell renal cancer. [provided by RefSeq, Sep 2010]
  • end-stage renal disease (ESRD) in early to mid-adulthood. ESRD is a life-threatening failure of kidney
  • REN gene in each cell. The mutations involved in REN-related kidney disease either change or remove a
  • gene in each cell is sufficient to cause the disorder. All reported cases have resulted from new
  • mostly through the diet, is used by cells to process fats and produce energy. Signs and symptoms of
  • protein that malfunctions within the cell. Other mutations prevent one copy of the gene in each cell from
  • translocations in renal cell carcinomas and other cancers, resulting in the production of fusion proteins
  • proteins produced from these genes are known or suspected to play roles in cell structures called cilia
  • incorrect 3-dimensional shape. The misfolded protein is trapped within the cell, where it is unable to reach
  • renal agenesis). Affected individuals commonly develop skeletal abnormalities, particularly of the
  • front of the ear. These are called preauricular pits and preauricular tags, respectively.Renal
  • play a role in pathological processes, such as cancer, inflammatory diseases, renal diseases, and
  • cancers including lung, esophageal, renal tumors, and head and neck squamous cell carcinoma. In some cases
  • channel that carries water molecules across cell membranes. It is found in the kidneys in structures
  • role in mitochondria, which are structures inside cells that convert the energy from food into a form
  • formation and result in the tendency to develop leiomyomas and renal cell cancer.
  • microscopic, finger-like projections that stick out from the surface of cells and participate in signaling
  • the mouth and digestive tract). Typically, high levels of PAX2 gene expression in cancer cells are
  • Mutations in this gene are associated with papillary renal cell carcinoma, hepatocellular carcinoma, and
  • cells from the damaging effects of unstable molecules called free radicals. However, having too much
  • the gastrointestinal tract, or renal cell carcinoma, which is a type of kidney cancer. SDHB gene
  • This pathway is thought to help direct the movement (migration) of cells during early development
  • Proteins in the kinesin family are essential for the transport of materials within cells. Kinesin proteins
  • a signaling pathway known as the Notch pathway. Notch signaling controls how certain types of cells
  • Changes in chromosome 3 have been identified in a type of kidney cancer called clear cell renal
  • keys into locks. Together, ligands and their receptors trigger signals that affect cell development and
  • specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity
  • mutations have been identified in some cases of clear cell renal cell carcinoma (a type of kidney cancer
  • risk of developing a type of kidney cancer called clear cell renal cell carcinoma and a type of
  • contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an

Viewing: Health Conditions

Viewing: Genes

  • The CEP290 gene provides instructions for making a protein that is present in many types of cells
  • result, cells lining the renal tubules may grow and divide abnormally, leading to the growth of numerous
  • is produced in bone cells. This protein is necessary in regulating the phosphate levels within the
  • urine. Specifically, nephrin is found in cells called podocytes, which are located in specialized kidney
  • translocation t(2;3)(q33;q21) is associated with familial clear cell renal cancer. [provided by RefSeq, Sep 2010]
  • REN gene in each cell. The mutations involved in REN-related kidney disease either change or remove a
  • translocations in renal cell carcinomas and other cancers, resulting in the production of fusion proteins
  • incorrect 3-dimensional shape. The misfolded protein is trapped within the cell, where it is unable to reach
  • play a role in pathological processes, such as cancer, inflammatory diseases, renal diseases, and
  • cancers including lung, esophageal, renal tumors, and head and neck squamous cell carcinoma. In some cases
  • channel that carries water molecules across cell membranes. It is found in the kidneys in structures
  • role in mitochondria, which are structures inside cells that convert the energy from food into a form
  • formation and result in the tendency to develop leiomyomas and renal cell cancer.
  • the mouth and digestive tract). Typically, high levels of PAX2 gene expression in cancer cells are
  • Mutations in this gene are associated with papillary renal cell carcinoma, hepatocellular carcinoma, and
  • cells from the damaging effects of unstable molecules called free radicals. However, having too much
  • the gastrointestinal tract, or renal cell carcinoma, which is a type of kidney cancer. SDHB gene
  • Proteins in the kinesin family are essential for the transport of materials within cells. Kinesin proteins
  • a signaling pathway known as the Notch pathway. Notch signaling controls how certain types of cells
  • Changes in chromosome 3 have been identified in a type of kidney cancer called clear cell renal
  • keys into locks. Together, ligands and their receptors trigger signals that affect cell development and
  • specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity
  • mutations have been identified in some cases of clear cell renal cell carcinoma (a type of kidney cancer
  • contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an