Yayıncı "Amer Soc Clinical Investigation Inc" Tıp Fakültesi için listeleme
Toplam kayıt 9, listelenen: 1-9
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A Dna-Pkcs Mutation in A Radiosensitive T-B- Scid Patient Inhibits Artemis Activation And Nonhomologous End-Joining
(Amer Soc Clinical Investigation Inc, 2009)Radiosensitive T-B- severe combined immunodeficiency (RS-SCID) is caused by defects in the nonhomologous end-joining (NHEJ) DNA repair pathway, which results in failure of functional V(D)J recombination. Here we have ... -
Coq6 Mutations In Human Patients Produce Nephrotic Syndrome With Sensorineural Deafness
(Amer Soc Clinical Investigation Inc, 2011)Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure. Identification of single-gene causes of SRNS has generated some insights into its pathogenesis; however, additional genes and ... -
Defects In The E2 Lipoyl Transacetylase And The X-Lipoyl Containing Component Of The Pyruvate-Dehydrogenase Complex In Patients With Lactic Acidemia
(Amer Soc Clinical Investigation Inc, 1990) -
Griscelli Syndrome Restricted To Hypopigmentation Results From A Melanophilin Defect (Gs3) Or A Myo5A F-Exon Deletion (Gs1)
(Amer Soc Clinical Investigation Inc, 2003)Griscelli syndrome (GS) is a rare autosomal recessive disorder that associates hypopigmentation, characterized by a silver-gray sheen of the hair and the presence of large clusters of pigment in the hair shaft, and the ... -
Hyper-Igm Syndrome Type 4 With A B Lymphocyte-Intrinsic Selective Deficiency In Ig Class-Switch Recombination
(Amer Soc Clinical Investigation Inc, 2003)Hyper-IgM syndrome (HIGM) is a heterogeneous condition characterized by impaired Ig class-switch recombination (CSR). The molecular defects that have so far been associated with this syndrome which affect the CD40 ligand ... -
Mutations In Ig Alpha (Cd79A) Result In In B-Cell Development
(Amer Soc Clinical Investigation Inc, 1999)Mutations in Btk, mu heavy chain, or the surrogate light chain account for 85-90% of patients with early onset hypogammaglobulinemia and absent B cells. The nature of the defect in the remaining patients is unknown. We ... -
Mutations In Signal Recognition Particle Srp54 Cause Syndromic Neutropenia With Shwachman-Diamond-Like Features
(Amer Soc Clinical Investigation Inc, 2017)Shwachman-Diamond syndrome (SDS) (OMIM # 260400) is a rare inherited bone marrow failure syndrome (IBMFS) that is primarily characterized by neutropenia and exocrine pancreatic insufficiency. Seventy-five to ninety percent ... -
Posttranscriptional Manipulation of Terc Reverses Molecular Hallmarks of Telomere Disease
(Amer Soc Clinical Investigation Inc, 2016)The telomerase RNA component (TERC) is a critical determinant of cellular self-renewal. Poly(A)-specific ribonuclease (PARN) is required for posttranscriptional maturation of TERC. PARN mutations lead to incomplete 3' end ... -
Rap1-Mediated Mek/Erk Pathway Defects in Kabuki Syndrome
(Amer Soc Clinical Investigation Inc, 2015)The genetic disorder Kabuki syndrome (KS) is characterized by developmental delay and congenital anomalies. Dominant mutations in the chromatin regulators lysine (K)-specific methyltransferase 2D (KMT2D) (also known as ...
