Hans D. Ochs
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Hans D. Ochs
Hans Dieter Ochs (born September 29, 1936 in Spaichingen, Germany), is an immunologist and pediatrician. He is Professor of Pediatrics, Division of Immunology, Department of Pediatrics, University of Washington School of Medicine, Seattle. Medical and research career Hans D. Ochs Graduation, graduated from the University of Freiburg, Germany with a degree and Doctorate in Medicine. He was a resident in Pediatrics at Kapiolani Medical Center for Women and Children in Honolulu, at the University of Tübingen, Germany and at the University of Washington, Seattle. He received post-graduate training in Biochemistry at the University of Tübingen and in clinical Immunology at the University of Washington. He is certified by the American Board of Pediatrics, the American Board of Allergy and Immunology and the German Pediatric Board. Ochs' research focuses on the molecular basis of primary immunodeficiency diseases with special interest in the genes that have been linked to the Wiskott ...
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Spaichingen
Spaichingen ( Swabian: ''Spoachenga'') is a town in the district of Tuttlingen in Baden-Württemberg, Germany. It is situated 11 kilometers northwest of Tuttlingen, and 13 km southeast of Rottweil. It is 660 meters above sea level. Population: 13,187 (2020). Geography Spaichingen is a small town located in the south of Germany at the Swabian Jura, which is a mountain range in Baden-Württemberg. The straight-line distance between Spaichingen and Stuttgart is 85 kilometres and between Spaichingen and Constance, which is a city at the Lake Constance, the straight-line distance is 56 kilometres. Many communities border on the area of Spaichingen: Hausen ob Verena, Gunningen, Trossingen, Aldingen, Denkingen, Böttingen, Balgheim and Rietheim-Weilheim. A large part of the area of Spaichingen is nature, since 733 hectares, which is almost 40% of the whole area, are forests. Moreover, there is a park in the city, which is called "Ententeich". The river Prim, which is a tributar ...
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X-linked Agammaglobulinemia
X-linked agammaglobulinemia (XLA) is a rare genetic disorder discovered in 1952 that affects the body's ability to fight infection. As the form of agammaglobulinemia that is X-linked, it is much more common in males. In people with XLA, the lymphopoiesis, white blood cell formation process does not generate mature B cells, which manifests as a complete or near-complete lack of proteins called gamma globulins, including antibody, antibodies, in their bloodstream. B cells are part of the immune system and normally manufacture antibodies (also called immunoglobulins), which defend the body from infections by sustaining a humoral immunity response. Patients with untreated XLA are prone to develop serious and even fatal infections. A mutation occurs at the Bruton's tyrosine kinase (Btk) gene that leads to a severe block in B cell development (at the pre-B cell to immature B cell stage) and a reduced immunoglobulin production in the serum. Btk is particularly responsible for mediating B ce ...
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Seattle Children's Hospital
Seattle Children's, formerly Children's Hospital and Regional Medical Center, formerly Children's Orthopedic Hospital, is a children's hospital in the Laurelhurst neighborhood of Seattle, Washington. The hospital specializes in the care of infants, children, teens, and young adults aged 0–21 in several specialties. History The hospital was founded as the seven-bed Children's Orthopedic Hospital in 1907 by Anna Herr Clise after her 5-year-old son, Willis, died of inflammatory rheumatism in 1898. It was originally a ward of the downtown Seattle General Hospital. It moved to a cottage on Queen Anne Hill the next year, and in 1911 influential community members including Herbert Gowen and Mark A. Matthews dedicated a full 40-bed hospital at the same location. The library at the hospital was founded in 1946. In 1953, Children's moved to a new campus in Laurelhurst, east of the University of Washington. A research division, Seattle Children's Research Institute (SCRI), was es ...
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STAT3
Signal transducer and activator of transcription 3 (STAT3) is a transcription factor which in humans is encoded by the ''STAT3'' gene. It is a member of the STAT protein family. Function STAT3 is a member of the STAT protein family. In response to cytokines and growth factors, STAT3 is phosphorylated by receptor-associated Janus kinases (JAK), forms homo- or heterodimers, and translocates to the cell nucleus where it acts as a transcription activator. Specifically, STAT3 becomes activated after phosphorylation of tyrosine 705 in response to such ligands as interferons, epidermal growth factor (EGF), Interleukin (IL-)5 and IL-6. Additionally, activation of STAT3 may occur via phosphorylation of serine 727 by Mitogen-activated protein kinases (MAPK) and through c-src non-receptor tyrosine kinase. STAT3 mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. STAT3-deficien ...
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Uracil-DNA Glycosylase
Uracil-DNA glycosylase is also known as UNG or UDG. Its most important function is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosidic bond and initiating the base-excision repair (BER) pathway. Function The human gene encodes one of several uracil-DNA glycosylases. Alternative promoter usage and splicing of this gene leads to two different isoforms: the mitochondrial UNG1 and the nuclear UNG2. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosidic bond and initiating the base-excision repair (BER) pathway. Uracil bases occur from cytosine deamination or misincorporation of dUMP residues. After a mutation occurs, the mutagenic threat of uracil propagates through any subsequent DNA replication steps. Once unzipped, mismatched guanine and uracil pairs are separated, and DNA polymerase inserts complementary bases to form a guanine-cytosine (GC) pair in ...
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FOXP3
FOXP3 (forkhead box P3), also known as scurfin, is a protein involved in immune system responses. A member of the FOX protein family, FOXP3 appears to function as a master regulator of the regulatory pathway in the development and function of regulatory T cells. Regulatory T cells generally turn the immune response down. In cancer, an excess of regulatory T cell activity can prevent the immune system from destroying cancer cells. In autoimmune disease, a deficiency of regulatory T cell activity can allow other autoimmune cells to attack the body's own tissues. While the precise control mechanism has not yet been established, FOX proteins belong to the forkhead/winged-helix family of transcriptional regulators and are presumed to exert control via similar DNA binding interactions during transcription. In regulatory T cell model systems, the FOXP3 transcription factor occupies the promoters for genes involved in regulatory T-cell function, and may inhibit transcription of key gene ...
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Bruton's Tyrosine Kinase
Bruton's tyrosine kinase (abbreviated Btk or BTK), also known as tyrosine-protein kinase BTK, is a tyrosine kinase that is encoded by the ''BTK'' gene in humans. BTK plays a crucial role in B cell development. Structure BTK contains five different protein interaction domains. These domains include an amino terminal pleckstrin homology (PH) domain, a proline-rich TEC homology (TH) domain, SRC homology (SH) domains SH2 and SH3, as well as a kinase domain with enzymatic activity. Function BTK plays a crucial role in B cell development as it is required for transmitting signals from the pre-B cell receptor that forms after successful immunoglobulin heavy chain rearrangement. It also has a role in mast cell activation through the high-affinity IgE receptor. Btk contains a PH domain that binds phosphatidylinositol (3,4,5)-trisphosphate (PIP3). PIP3 binding induces Btk to phosphorylate phospholipase C, which in turn hydrolyzes PIP2, a phosphatidylinositol, into two second mess ...
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Wiskott–Aldrich Syndrome Protein
The Wiskott–Aldrich Syndrome protein (WASp) is a 502-amino acid protein expressed in cells of the hematopoietic system that in humans is encoded by the ''WAS'' gene. In the inactive state, WASp exists in an autoinhibited conformation with sequences near its C-terminus binding to a region near its N-terminus. Its activation is dependent upon CDC42 and PIP2 acting to disrupt this interaction, causing the WASp protein to 'open'. This exposes a domain near the WASp C-terminus that binds to and activates the Arp2/3 complex. Activated Arp2/3 nucleates new F-actin. WASp is the founding member of a gene family which also includes the broadly expressed N-WASP (neuronal Wiskott–Aldrich Syndrome protein), SCAR/ WAVE1, WASH, WHAMM, and JMY. WAML (WASP and MIM like), WAWH (WASP without WH1 domain), and WHIMP (WAVE Homology in Membrane Protrusions) have more recently been discovered. Structure and function The Wiskott–Aldrich syndrome (WAS) family of proteins share similar dom ...
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CD40L
CD154, also called CD40 ligand or CD40L, is a protein that is primarily expressed on activated T cells and is a member of the TNF superfamily of molecules. It binds to CD40 on antigen-presenting cells (APC), which leads to many effects depending on the target cell type. In total CD40L has three binding partners: CD40, α5β1 integrin and αIIbβ3. CD154 acts as a costimulatory molecule and is particularly important on a subset of T cells called T follicular helper cells (TFH cells). On TFH cells, CD154 promotes B cell maturation and function by engaging CD40 on the B cell surface and therefore facilitating cell-cell communication. A defect in this gene results in an inability to undergo immunoglobulin class switching and is associated with hyper IgM syndrome. Absence of CD154 also stops the formation of germinal centers and therefore prohibiting antibody affinity maturation, an important process in the adaptive immune system. History In 1991, three groups reported discovering ...
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X Chromosome
The X chromosome is one of the two sex-determining chromosomes (allosomes) in many organisms, including mammals (the other is the Y chromosome), and is found in both males and females. It is a part of the XY sex-determination system and XO sex-determination system. The X chromosome was named for its unique properties by early researchers, which resulted in the naming of its counterpart Y chromosome, for the next letter in the alphabet, following its subsequent discovery. Discovery It was first noted that the X chromosome was special in 1890 by Hermann Henking in Leipzig. Henking was studying the testicles of ''Pyrrhocoris'' and noticed that one chromosome did not take part in meiosis. Chromosomes are so named because of their ability to take up staining (''chroma'' in Greek means ''color''). Although the X chromosome could be stained just as well as the others, Henking was unsure whether it was a different class of object and consequently named it ''X element'', which later be ...
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Phi X 174
The phi X 174 (or ΦX174) bacteriophage is a single-stranded DNA ( ssDNA) virus that infects ''Escherichia coli'', and the first DNA-based genome to be sequenced. This work was completed by Fred Sanger and his team in 1977. In 1962, Walter Fiers and Robert Sinsheimer had already demonstrated the physical, covalently closed circularity of ΦX174 DNA. Nobel prize winner Arthur Kornberg used ΦX174 as a model to first prove that DNA synthesized in a test tube by purified enzymes could produce all the features of a natural virus, ushering in the age of synthetic biology. In 1972–1974, Jerard Hurwitz, Sue Wickner, and Reed Wickner with collaborators identified the genes required to produce the enzymes to catalyze conversion of the single stranded form of the virus to the double stranded replicative form. In 2003, it was reported by Craig Venter's group that the genome of ΦX174 was the first to be completely assembled ''in vitro'' from synthesized oligonucleotides. The ΦX174 vi ...
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Bacteriophage
A bacteriophage (), also known informally as a ''phage'' (), is a duplodnaviria virus that infects and replicates within bacteria and archaea. The term was derived from "bacteria" and the Greek φαγεῖν ('), meaning "to devour". Bacteriophages are composed of proteins that encapsulate a DNA or RNA genome, and may have structures that are either simple or elaborate. Their genomes may encode as few as four genes (e.g. MS2) and as many as hundreds of genes. Phages replicate within the bacterium following the injection of their genome into its cytoplasm. Bacteriophages are among the most common and diverse entities in the biosphere. Bacteriophages are ubiquitous viruses, found wherever bacteria exist. It is estimated there are more than 1031 bacteriophages on the planet, more than every other organism on Earth, including bacteria, combined. Viruses are the most abundant biological entity in the water column of the world's oceans, and the second largest component of biom ...
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