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Familial Aplasia Of The Vermis: Disease Bioinformatics

Research of Familial Aplasia Of The Vermis has been linked to Muscle Hypotonia, Ataxia, Hypoplasia, Cerebellar Diseases, Developmental Disabilities. The study of Familial Aplasia Of The Vermis has been mentioned in research publications which can be found using our bioinformatics tool below. Researched pathways related to Familial Aplasia Of The Vermis include Localization, Transport, Pathogenesis, Cognition, Intraflagellar Transport. These pathways complement our catalog of research reagents for the study of Familial Aplasia Of The Vermis including antibodies and ELISA kits against RETINAL DYSTROPHY, TIMM8A, RAB8A, NPHP1, SHH.

Top Research Reagents

We have 416 products for the study of Familial Aplasia Of The Vermis that can be applied to Flow Cytometry, Immunocytochemistry/ Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

CEP290 Antibody
NB100-86991
Western Blot: CEP290 Antibody [NB100-86991] - Representative examples of immunoblot images of purified olfactory cilia. Three distinct cilia preparations each from LRBA-KO and WT mice (age, 4 weeks) were blotted in parallel (10 ug protein each), along with an OE and a brain sample (50 ug protein each), all shown at the same exposure. Image collected and cropped by CiteAb from the following publication (https://www.nature.com/articles/s41598-017-08543-4) licensed under a CC-BY license.Immunocytochemistry/Immunofluorescence: CEP290 Antibody [NB100-86991] - NBF-fixed asynchronous HeLa cells. Antibody used at a dilution of 1:500.

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

12 Publications
RPGRIP1L Antibody
NBP1-84403
Immunohistochemistry-Paraffin: RPGRIP1L Antibody [NBP1-84403] - Staining of human bronchus shows strong cytoplasmic positivity in respiratory epithelial cells.

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

2 Publications
MKS1 Antibody
NBP1-88692
Western Blot: MKS1 Antibody [NBP1-88692] - Lane 1: NIH-3T3 cell lysate (Mouse embryonic fibroblast cells), Lane 2: NBT-II cell lysate (Rat Wistar bladder tumour cells)Western Blot: MKS1 Antibody [NBP1-88692] - Lane 1: Marker [kDa] 230, 130, 95, 72, 56, 36, 28, 17, 11. Lane 2: Human cell line RT-345

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

PMPCA Antibody
NBP1-89126
Immunohistochemistry-Paraffin: PMPCA Antibody [NBP1-89126] - Staining in human adrenal gland and pancreas tissues using anti-PMPCA antibody. Corresponding PMPCA RNA-seq data are presented for the same tissues.Western Blot: PMPCA Antibody [NBP1-89126] - Analysis in HEK293 cells transfected with control siRNA, target specific siRNA probe #1, using Anti-PMPCA antibody. Remaining relative intensity is presented. Loading control: Anti-PPIB.

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

4 Publications
OFD1 Antibody
NBP1-89355
Immunohistochemistry-Paraffin: OFD1 Antibody [NBP1-89355] - Staining of human endometrium shows moderate cytoplasmic positivity in glandular cells.Immunohistochemistry-Paraffin: OFD1 Antibody [NBP1-89355] - Staining of human testis shows strong cytoplasmic positivity in seminiferous ducts.

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

9 Publications
MKKS Antibody
NBP1-92123
Western Blot: MKKS Antibody [NBP1-92123] - Lane 1: Marker [kDa] 250, 130, 95, 72, 55, 36, 28, 17, 10. Lane 2: Human cell line RT-4. Lane 3: Human cell line U-251MG spImmunocytochemistry/Immunofluorescence: MKKS Antibody [NBP1-92123] - Immunofluorescent staining of human cell line U-2 OS shows localization to centrosome.

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

CC2D2A Antibody
NBP1-93673
Immunohistochemistry-Paraffin: CC2D2A Antibody [NBP1-93673] - Staining of human placenta shows strong nuclear and cytoplasmic positivity in trophoblastic cells.

Rabbit Polyclonal
Species Human
Applications IHC, IHC-P

1 Publication
RAB8A Antibody (3G1)
H00004218-M02
Western Blot: RAB8A Antibody (3G1) [H00004218-M02] - RAB8A monoclonal antibody (M02), clone 3G1 Analysis of RAB8A expression in Hela S3 NE.Immunocytochemistry/Immunofluorescence: RAB8A Antibody (3G1) [H00004218-M02] - Neuromast hair cells of zebrafish embryos stained with RAB8A antibody. Donkey anti-mouse Alexa Fluor 594 secondary antibody was used. Image from verified customer.

Mouse Monoclonal
Species Human, Mouse, Zebrafish
Applications WB, ELISA, ICC/IF

     1 Review

9 Publications
AHI1 Antibody
NBP2-15309
Western Blot: AHI1 Antibody [NBP2-15309] - Sample (30 ug of whole cell lysate) A: IMR32 7.5% SDS PAGE; antibody diluted at 1:1000.Immunocytochemistry/Immunofluorescence: AHI1 Antibody [NBP2-15309] - Analysis of methanol-fixed HeLa, using antibody at 1:500 dilution.

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

ARL13B Antibody
NBP2-15463
Western Blot: ARL13B Antibody [NBP2-15463] - Human plasma (30 ug) was separated by 10% SDS-PAGE, and the membrane was blotted with ARL13B antibody diluted at 1:10000. The HRP-conjugated anti-rabbit IgG antibody (NBP2-19301) was used to detect the primary antibody.Immunocytochemistry/Immunofluorescence: ARL13B Antibody [NBP2-15463] - The presence of VDAC1-DC in ccRCC cells decreases or abolishes ciliation. Triple immunofluorescence labeling and merged images with acetylated alpha -tubulin (Acet. alpha -tubulin in red), Arl13b (in green) and DAPI (in blue). Image collected and cropped by CiteAb from the following publication (//www.thno.org/v10p2696.htm) licensed under a CC-BY license.

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

Recombinant Human Inversin GST (N-Term) Protein
H00027130-P02
12.5% SDS-PAGE Stained with Coomassie Blue.


Species Human
Applications WB, ELISA, PA

Sonic Hedgehog/Shh [Unconjugated]
464-SH
Recombinant Mouse Sonic Hedgehog/Shh (C25Il), N-Terminus (Catalog # 464-SH) induces alkaline phosphatase production by the C3H10T1/2 mouse embryonic fibroblast cell line. The activity is more than 30-fold greater than the top competitor's Sonic Hedgehog.Recombinant Mouse Sonic Hedgehog/Shh (C25II), N-Terminus (Catalog # 464-SH) has a molecular weight (MW) of 20.7 kDa as analyzed by SEC-MALS, suggesting that this protein is a monomer.  MW may differ from predicted MW due to post-translational modifications (PTMs) present (i.e. Glycosylation).


Species Mouse
Applications BA

69 Publications
TIMM8A Antibody (2F11)
H00001678-M01
Western Blot: TIMM8A Antibody (2F11) [H00001678-M01] - Analysis of TIMM8A expression in transfected 293T cell line by TIMM8A monoclonal antibody (M01), clone 2F11.Lane 1: TIMM8A transfected lysate(11 KDa).Lane 2: Non-transfected lysate.Immunohistochemistry-Paraffin: TIMM8A Antibody (2F11) [H00001678-M01] - Analysis of monoclonal antibody to TIMM8A on formalin-fixed paraffin-embedded human liver. Antibody concentration 3 ug/ml.

Mouse Monoclonal
Species Human
Applications WB, ELISA, IHC

1 Publication
Meckelin Antibody
NBP1-06590
Western Blot: Meckelin Antibody [NBP1-06590] - Immunodetection of Meckelin (120kDa) in whole cell extracts of HEK293 cells.Immunohistochemistry: Meckelin Antibody [NBP1-06590] - Confocal maximum projection of acetylated alpha-tubulin (red) and meckelin (green) labelling in sections from unaffected and affected kidneys. In unaffected kidneys, meckelin was present within the cytoplasm of the epithelial cells and strongly localised to the base of the cilium. In contrast, meckelin was distributed along the length of the ciliary axonemes of affected cyst-lining cells. Meckelin distribution within the cytoplasm of cyst lining cells was similar to observations in unaffected epithelia. Image collected and cropped by CiteAb from the following publication (//pubmed.ncbi.nlm.nih.gov/28487520/) licensed under a CC-BY license.

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

2 Publications
RPGRIP1 Antibody
NBP2-55753
Immunohistochemistry-Paraffin: RPGRIP1 Antibody [NBP2-55753] - Staining of human liver shows no positivity in hepatocytes as expected.Immunohistochemistry-Paraffin: RPGRIP1 Antibody [NBP2-55753] - Staining of human eye retina shows moderate positivity in the photoreceptor layer.

Rabbit Polyclonal
Species Human
Applications IHC, IHC-P

TMEM216 Overexpression Lysate
NBL1-17065
Western Blot: Transmembrane protein 216 Overexpression Lysate (Adult Normal) [NBL1-17065] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for Transmembrane protein 216.


Species Human
Applications WB

INPP5E Antibody - Azide and BSA Free
NBP3-05081
Western Blot: INPP5E Antibody [NBP3-05081] - Analysis of extracts of SH-SY5Y cells, using INPP5E antibody at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic KitImmunocytochemistry/Immunofluorescence: INPP5E Antibody [NBP3-05081] - Analysis of L929 cells using INPP5E antibody at dilution of 1:100. Blue: DAPI for nuclear staining.

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

NPHP4 Antibody - Azide and BSA Free
NBP2-93637
Western Blot: NPHP4 Antibody [NBP2-93637] - Analysis of extracts of various cell lines, using NPHP4 .Exposure time: 30s.

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

Nephronophthisis Antibody - Azide and BSA Free
NBP2-94059
Western Blot: Nephronophthisis Antibody [NBP2-94059] - Analysis of extracts of Mouse pancreas, using NPHP1 antibody at 1:1000 dilution.Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) at 1:10000 dilution.Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST.Detection: ECL Basic Kit. Exposure time: 180s.Immunohistochemistry-Paraffin: Nephronophthisis Antibody [NBP2-94059] - Rat testis using NPHP1 Rabbit pAb at dilution of 1:50 (40x lens).Perform high pressure antigen retrieval with 10 mM citrate buffer pH 6.0 before commencing with IHC staining protocol.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, ELISA, ICC/IF


Related Genes

Familial Aplasia Of The Vermis has been researched against:

Related Pathways

Familial Aplasia Of The Vermis has been linked to:

Related Diseases

Familial Aplasia Of The Vermis has been studied in relation to diseases such as:

Related PTMs

Familial Aplasia Of The Vermis has been studied in relation to posttranslational modifications (PTMs) including:

Alternate Names

Familial Aplasia Of The Vermis is also known as Cerebellar Vermis Agenesis, Joubert Syndrome, Joubert Syndrome 1, Joubert-boltshauser Syndrome.