KAL1 Antibody

1. Tumor protein p73 (TAp73) and kallmann syndrome 1 sequence protein (KAI1) expression levels are positively correlated in colorectal cancer. PMID: 29222041
2. A pathogenic variant was identified in the ANOS1 gene on the X chromosome: c.1267C>T, in 2 brothers who were hemizygous, and their mother, who was heterozygous for the variant. PMID: 29211946
3. Hemizygous mutations were identified in three Kallman syndrome cases: a novel splice acceptor site mutation leading to skipping of exon 5 in the ANOS1 transcript in a patient with self-reported normosmia (but hyposmic upon testing); a recurrent nonsense mutation and a novel 4.8 Mb deletion involving ANOS1 and eight other genes (VCX3B, VCX2, PNPLA4, VCX, STS, HDHD1, VCX3A and NLGN4X) in KS associated with ichthyosis. PMID: 28122887
4. ANOS1 expression shows continuous activation during the progression of colorectal cancer, its expression is closely related to the overall survival rate of patients. PMID: 28854193
5. The prevalence of ANOS1 gene mutations is higher in familial Chinese Kallmann Syndrome patients. PMID: 28780519
6. This study presents the first experimental evidence indicating a molecular interaction between anosmin 1 and PKR2. A truncated anosmin 1 protein comprising the first three domains of the protein interacts with the second extracellular loop of PKR2, involved in PK2 binding. PMID: 27184500
7. Anosmin-1 over-expression regulates oligodendrocyte precursor cell proliferation, migration and myelin sheath thickness. Data confirmed the involvement of (A1) works as a chemotropic cue contributing to axonal outgrowth and in oligodendrogliogenesis and its relevance for myelination. PMID: 25662897
8. two novel variants, KAL1 (c.146G>T (p.Cys49Phe)) and mitochondrial tRNAcys (m.5800A>G), were identified in a large Han Chinese family with inherited Kallmann syndrome; although two variants can't exert obvious effects on the migration of GnRH neurons, they show a synergistic effect, which can account for the occurrence of the disorder in this family PMID: 26278626
9. FGF receptor 1-mediated anosmin-1 activity plays a crucial role in the continuous remodelling of the adult olfactory bulb. PMID: 25300351
10. Study reports 2 new mutations in KAL1 gene from patients with septo-optic dysplasia proven to be loss-of-function. PMID: 26375424
11. data indicated KAL1 plays potential suppressive role on OSCC initiation and progression. KAL1 gene may serve as adjuvant biomarker for identification of pathological grade. PMID: 25060050
12. Kallmann syndrome with FGFR1 and KAL1 mutations was detected during fetal life PMID: 26051373
13. Our analyses show that the two phenotypes in our patient are due to independent genetic defects: a genomic rearrangement involving the KAL1 gene and a point mutation of the steryl-sulfatase gene. PMID: 25726327
14. Results indicated that KAL1 may act as a putative tumor suppressor in hepatocellular carcinoma (HCC) and is inactivated by promoter hypermethylation. KAL1 may serve as a biomarker of malignant phenotype of HCC. PMID: 25892360
15. No abnormalities were found in the patient group for the PROKR2 and GNRH1genes. In addition, no genomic rearrangements were identified in the healthy control individuals for the described genes PMID: 24002956
16. Mutations were found in the following genes in one or more patients with congenital hypogonadotropic hypogonadism: KAL1, FGFR1, GNRHR, and CHD7 PMID: 24732674
17. anosmin-1 has been identified in other pathological scenarios both within (multiple sclerosis) and outside (cancer, atopic dermatitis) the central nerve system. PMID: 25300141
18. Anosmin-1 can facilitate tumor cell proliferation, migration, invasin, and survival. PMID: 24189182
19. Two brothers presented with a sensorineural hearing impairment associated with cryptorchidism and abnormal movements. Genome-wide array analysis identified a large deletion of KAL1 in both patients confirming the diagnosis of Kallmann syndrome. PMID: 24232061
20. These results indicate that intragenic multiexon deletions are one of the most frequent KAL1 abnormalities, which can be more accurately detected by multiplex ligation-dependent probe amplification. PMID: 23721716
21. Increased presence of anosmin-1 in TGF-beta treated human retinal pigment epithelial cells cells, with distinct localization at the intercellular junctions. PMID: 23357298
22. Mutation analysis reveals a missense mutation of KAL1 in two brothers with Kallmann syndrome, while their mother is heterozygous for this missense mutation encoded by the single-nucleotide polymorphism rs2229013. PMID: 23410897
23. genetic association studies in population in Massachusetts: Data suggest that clinical features in Kallmann syndrome (KS) are highly associated with genetic causes: synkinesia is associated with genetic variations/mutations in KAL1. PMID: 23533228
24. Peculiar prolactinomas in patients with pituitary developmental Kal 2 gene mutations PMID: 22801565
25. we demonstrate that missense mutations reported in patients with KS, C172R and N267K did not alter or substantially reduce, respectively, the binding to FGFR1 PMID: 23189990
26. A central role of KAL-1, in GnRH neuron ontogeny - specifically in GnRH neuronal migration from the cribriform plate area into the brain. PMID: 21497178
27. we report the case of a deletion of exons 4 to 14 (c.469-?_6314+?del) within the KAL1 gene in two related patients and in three female carriers among the members of the presented family. PMID: 21717404
28. The results of this study proposed that FGF-2 and Anosmin-1 are markers for the histopathological type and the level of inflammation of multiple sclerosis lesions PMID: 22016523
29. Comprehensive mutation analysis of all 7 known KS genes (KAL1, FGFR1, FGF8, PROK2, PROKR2, CHD7, and WDR11) in 30 well-phenotyped probands revealed mutations in KAL1 (3 men) and FGFR1 (all 5 women vs. 4/25 men), but not in other genes in Finland patients. PMID: 21682876
30. Two new mutations were detected in KAL1 from male patients with idiopathic hypogonadotropic hypogonadism. PMID: 21351529
31. Role of the KAL1 protein missense mutations in Kallman syndrome and in olfactory bulb development. PMID: 20530987
32. Mutations of KAL1 underlie an autosomal dominant form of Kallmann syndrome. PMID: 20362962
33. Anosmin-1 produced by epidermal keratinocytes in response to calcium concentrations or cytokines may modulate epidermal nerve density in atopic dermatitis. PMID: 20219326
34. KAL1 gene expression plays an important role in cancer metastasis and protection from apoptosis. PMID: 19844165
35. report describes 2 intragenic deletions of KAL-1 in 2 Kallmann syndrome (KS) patients & suggests KAL-1 deletion may be more prevalent in KS patients with other congenital organ abnormalities than those described previously from Northwestern China PMID: 19734936
36. Identification of three novel mutations in the KAL1 gene in patients with Kallmann syndrome. PMID: 12050219
37. AL1 gene product, the extracellular matrix protein anosmin-1, is involved in FGF signaling PMID: 12627230
38. six novel and two recurrent intragenic KAL1 mutations in seven familial and four sporadic male cases of Kallmann syndrome PMID: 15001591
39. it is unlikely that KAL gene mutations are a clinically significant cause of sporadic GnRH deficiency in female patients PMID: 15004876
40. anosmin-1 may modulate the catalytic activity of uPA and its signalling pathway, whereas HS determines cell surface localization of the anosmin-1-uPA complex PMID: 15324302
41. a direct action of anosmin-1 on the migratory activity of GnRH neurons is shown PMID: 15471890
42. anosmin-1 is an isoform-specific co-ligand modulator of FGFR signaling that amplifies and specifies FGFR1 signaling responses during human nervous system development and defines the link between autosomal and X-linked Kallmann's syndrome PMID: 15548653
43. KAL1 gene has a closely related nonfunctional pseudogene on the Y chromosome PMID: 15636431
44. analysis of the biological function of anosmin-1 and its ability to interact with its three macromolecular ligands PMID: 15949815
45. Data suggest that the relative concentrations of Anosmin-1 and FGF-2 modulate the migration of oligodendrocyte precursors during development through their interaction with FGFR1. PMID: 16876430
46. The phenotype of renal agenesis/dysgenesis strongly indicates the existence of KAL1 gene defects in the genotype of patients with sporadic Kallmann syndrome. PMID: 17603054
47. KAL1 mutations result in a more severe reproductive phenotype than FGFR1/KAL2 mutations. PMID: 18160472
48. 12% of Kallman syndrome males have KAL1 deletions, but intragenic deletions of the FGFR1, GNRH1, GNRHR, GPR54 and NELF genes are uncommon in Idiopathic hypogonadotropic hypogonadism/Kallman syndrome. PMID: 18463157
49. binding of anosmin-1 to FGFR1 and heparin can play a dual role in assembly and activity of the ternary FGFR1.FGF2.heparin complex. PMID: 19696444

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HGNC: 6211

OMIM: 300836

KEGG: hsa:3730

STRING: 9606.ENSP00000262648

UniGene: Hs.521869