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Klein's Syndrome: Disease Bioinformatics

Klein’s Syndrome, also known as Waardenburg Syndrome, is a rare genetic disorder that is characterized by deafness, defects in structures arising from the neural crest, nose deformities and skin, iris and hair pigmentation abnormalities. Klein’s syndrome cis caused by defects in a number of genes that help to form cells including melanocytes, and by disruptions in myogenesis, particularly mutations in Pax3. Currently, treatment primarily addresses the alleviation of apparent symptoms, and research is being done at addressing the root cause.

Top Research Reagents

We have 907 products for the study of Klein's Syndrome that can be applied to Flow Cytometry, Immunocytochemistry/ Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

Dynactin 6 Antibody
NBP1-80616
Western Blot: Dynactin 6 Antibody [NBP1-80616] - Lane 1: NIH-3T3 cell lysate (Mouse embryonic fibroblast cells). Lane 2: NBT-II cell lysate (Rat Wistar bladder tumor cells).Immunohistochemistry-Paraffin: Dynactin 6 Antibody [NBP1-80616] - Staining of human colon shows moderate cytoplasmic positivity in glandular cells.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, IHC, IHC-P

2 Publications
Elastin Antibody (BA-4)
NB100-2076
Western Blot: Elastin Antibody (BA-4) [NB100-2076] - Analysis of tropoelastin using the mAb BA-4 elastin antibody (NB100-2076). A: Western blot of tropoelastin purified from bovine ligamentum nuchae tissue minces. B: Autoradiogram of a gradient SDS-polyacrylamide gel showing [3H] leucine-labeled tropoelasti.Immunohistochemistry-Paraffin: Elastin Antibody (BA-4) [NB100-2076] - Formalin fixed paraffin embedded human renal cell carcinoma stained with Elastin antibody (NB100-2076)

Mouse Monoclonal
Species Human, Bovine, Feline
Applications WB, ICC/IF, IHC

     2 Reviews

11 Publications
SS18L1 Antibody
NBP2-20486
Western Blot: SS18L1 Antibody [NBP2-20486] - Sample (50 ug of whole cell lysate) A: Mouse Brain, 10% SDS PAGE gel, diluted at 1:1000.Immunocytochemistry/Immunofluorescence: SS18L1 Antibody [NBP2-20486] - Immunofluorescence analysis of paraformaldehyde-fixed A431, using antibody at 1:500 dilution.

Rabbit Polyclonal
Species Human, Mouse
Applications WB, ICC/IF, IHC

MTSS1 Antibody
NBP2-24716
Western Blot: MTSS1 Antibody [NBP2-24716] - Analysis of MTSS1 in human testis lysate in the 1) absence and 2) presence of immunizing peptide, 3) mouse and 4) rat testis lysate using NBP2-24716 at 2 ug/ml, 4 ug/ml and 2 ug/ml, respectively.Immunohistochemistry-Paraffin: MTSS1 Antibody [NBP2-24716] - Analysis of human colon using this antibody at 10 ug/ml.

Rabbit Polyclonal
Species Human, Mouse, Primate
Applications WB, ICC/IF, IHC

2 Publications
ZBTB8OS Antibody
NBP2-30455
Immunocytochemistry/Immunofluorescence: ZBTB8OS Antibody [NBP2-30455] - Staining of human cell line A-431 shows localization to plasma membrane.Immunohistochemistry: ZBTB8OS Antibody [NBP2-30455] - Staining of human spleen shows strong cytoplasmic positivity in cells in white pulp.

Rabbit Polyclonal
Species Human
Applications ICC/IF, IHC, IHC-P

MITF Antibody
AF5769
MITF was detected in paraffin-embedded sections of human skin using Goat Anti-Human MITF Antigen Affinity-purified Polyclonal Antibody (Catalog # AF5769) at 10 µg/mL overnight at 4 °C. Before incubation with the primary antibody tissue was subjected to heat-induced epitope retrieval using Antigen Retrieval Reagent-Basic (Catalog # <a class=Western blot shows lysates of Bowes human melanoma cell line and HeLa human cervical epithelial carcinoma cell line. PVDF membrane was probed with 1 µg/mL of Goat Anti-Human MITF Antigen Affinity-purified Polyclonal Antibody (Catalog # AF5769) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <a class=

Goat Polyclonal
Species Human
Applications WB, IHC

9 Publications
Pax3/Pax7 Antibody (274212) [Unconjugated]
MAB2457
Pax3 was detected in immersion fixed B16-F1 mouse melanoma cell line using Mouse Anti-Human/Mouse Pax3 Monoclonal Antibody (Catalog # MAB2457) at 2 µg/mL for 3 hours at room temperature. Cells were stained using the NorthernLights™ 557-conjugated Anti-Mouse IgG Secondary Antibody (red; Catalog # <a class=Characterization of iMPCs during monolayer differentiation. a–e Representative immunostaining of Pax3 (a), Myf5 (b), MyoD (c), and MyoG (d), and corresponding quantification (e) during iMPC expansion. Scale bar=100 µm. f Representative FACS analysis for CD56 in H9 and TRiPSC derived iMPCs. g Representative immunostaining (top) and quantification (bottom) of Pax7+ and MyoG+ cell populations for H9 and TRiPS derived myotubes at 2 weeks of monolayer differentiation. (n = 6 samples from 2 differentiations for each cell line). h Representative immunostaining and quantification of GFP+/Pax7+ and GFP-/Pax7+ cell pools at 2 weeks of monolayer differentiation. Scale bar=50 µm. (n = 4 samples from 2 differentiations for each cell line). i Representative immunostaining and quantification of myotube diameter at 1, 2, and 4 weeks of monolayer differentiation. (*P < 0.05 vs. 1 week, #P < 0.05 vs. 4 week, Tukey–Kramer HSD test; n = 6 samples from 2 differentiations for each cell line). Scale bars=50 µm. Data are presented as mean ± SEM Image collected and cropped by CiteAb from the following publication (https://pubmed.ncbi.nlm.nih.gov/29317646), licensed under a CC-BY license. Not internally tested by R&D Systems.

Mouse Monoclonal
Species Human, Mouse
Applications WB, CyTOF-ready, ICC

     1 Review

19 Publications
EDNRB/Endothelin R Type B Antibody - BSA Free
NLS54
Immunocytochemistry/Immunofluorescence: EDNRB/Endothelin R Type B Antibody [NLS54] - Analysis of anti-EDNRB / Endothelin B Receptor antibody with transfected cells expressing Endothelin B Receptor at 4 ug/ ml.Immunohistochemistry-Paraffin: EDNRB/Endothelin R Type B Antibody [NLS54] - Brain, Alzheimer's senile plaque

Rabbit Polyclonal
Species Human, Mouse, Canine
Applications WB, ICC/IF, IHC

3 Publications
Tyrosinase Antibody (JA52-11)
NBP2-67232
Western Blot: Tyrosinase Antibody (JA52-11) [NBP2-67232] - Western blot analysis of Tyrosinase on B16F1 cell lysates. Proteins were transferred to a PVDF membrane and blocked with 5% BSA in PBS for 1 hour at room temperature. The primary antibody (1/500) was used in 5% BSA at room temperature for 2 hours. Goat Anti-Rabbit IgG - HRP Secondary Antibody (HA1001) at 1:200,000 dilution was used for 1 hour at room temperature.Immunocytochemistry/Immunofluorescence: Tyrosinase Antibody (JA52-11) [NBP2-67232] - Staining Tyrosinase in B16F1 cells (red). The nuclear counter stain is DAPI (blue). Cells were fixed in paraformaldehyde, permeabilised with 0.25% Triton X100/PBS.

Rabbit Monoclonal
Species Human, Mouse
Applications WB, ICC/IF, IHC

Endothelin-3 Antibody (2A6-2A4)
H00001908-M01
Western Blot: Endothelin-3 Antibody (2A6-2A4) [H00001908-M01] - Analysis of EDN3 expression in transfected 293T cell line by EDN3 monoclonal antibody (M01), clone 2A6-2A4.Lane 1: EDN3 transfected lysate(25.5 KDa).Lane 2: Non-transfected lysate.Western Blot: Endothelin-3 Antibody (2A6-2A4) [H00001908-M01] - EDN3 monoclonal antibody (M01), clone 2A6-2A4 Analysis of EDN3 expression in LNCaP.

Mouse Monoclonal
Species Human
Applications WB, ELISA, IP

2 Publications

Related Genes

Klein's Syndrome has been researched against:

Related Pathways

Klein's Syndrome has been linked to:

Related Diseases

Klein's Syndrome has been studied in relation to diseases such as:

Alternate Names

Klein's Syndrome is also known as Klein Syndrome, Klein-waardenburg Syndrome, Waardenburg Syndrome Type 3, Waardenburg-klein Syndrome, White Forelock (poliosis) Syndrome With Multiple Congenital Malformations.