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Mutations in KAL1 cause the X-linked Kallmann syndrome. Additionally we are shipping KAL1 Kits (7) and KAL1 Proteins (2) and many more products for this protein.
Showing 10 out of 62 products:
Human Monoclonal KAL1 Primary Antibody for ELISA, WB - ABIN393230
Dodé, Hardelin: Clinical genetics of Kallmann syndrome. in Annales d'endocrinologie 2010
Show all 5 references for ABIN393230
Human Polyclonal KAL1 Primary Antibody for ELISA, WB - ABIN1451034
Legouis, Hardelin, Levilliers, Claverie, Compain, Wunderle, Millasseau, Le Paslier, Cohen, Caterina: The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. in Cell 1991
Show all 2 references for ABIN1451034
Human Polyclonal KAL1 Primary Antibody for EIA, WB - ABIN783480
Franco, Guioli, Pragliola, Incerti, Bardoni, Tonlorenzi, Carrozzo, Maestrini, Pieretti, Taillon-Miller, Brown, Willard, Lawrence, Graziella Persico, Camerino, Ballabio: A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. in Nature 1991
Human Polyclonal KAL1 Primary Antibody for ELISA, WB - ABIN561573
Hu, Yu, Shaw, Pask, Renfree: Kallmann syndrome 1 gene is expressed in the marsupial gonad. in Biology of reproduction 2011
Human Monoclonal KAL1 Primary Antibody for ELISA, WB - ABIN561574
Tengara, Tominaga, Kamo, Taneda, Negi, Ogawa, Takamori: Keratinocyte-derived anosmin-1, an extracellular glycoprotein encoded by the X-linked Kallmann syndrome gene, is involved in modulation of epidermal nerve density in atopic dermatitis. in Journal of dermatological science 2010
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
FGF receptor 1-mediated anosmin-1 activity plays a crucial role in the continuous remodelling of the adult olfactory bulb.
Study reports 2 new mutations in KAL1 gene from patients with septo-optic dysplasia proven to be loss-of-function.
data indicated KAL1 plays potential suppressive role on OSCC initiation and progression. KAL1 gene may serve as adjuvant biomarker for identification of pathological grade.
Kallmann syndrome with FGFR1 (show FGFR1 Antibodies) and KAL1 mutations was detected during fetal life
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 (show STS Antibodies) gene.
Results indicated that KAL1 may act as a putative tumor suppressor in hepatocellular carcinoma (HCC (show FAM126A Antibodies)) and is inactivated by promoter hypermethylation. KAL1 may serve as a biomarker of malignant phenotype of HCC (show FAM126A Antibodies).
No abnormalities were found in the patient group for the PROKR2 (show PROKR2 Antibodies) and GNRH1genes. In addition, no genomic rearrangements were identified in the healthy control individuals for the described genes
Mutations were found in the following genes in one or more patients with congenital hypogonadotropic hypogonadism: KAL1, FGFR1 (show FGFR1 Antibodies), GNRHR (show GNRHR Antibodies), and CHD7 (show CHD7 Antibodies)
anosmin-1 has been identified in other pathological scenarios both within (multiple sclerosis) and outside (cancer, atopic dermatitis) the central nerve system.
Mutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this cell surface protein is N-glycosylated and may have anti-protease activity.
Kallmann syndrome 1 sequence
, Kallmann syndrome interval gene 1
, Kallmann syndrome-1 sequence (anosmin-1)
, WAP four-disulfide core domain 19
, adhesion molecule-like X-linked
, kallmann syndrome protein
, kallmann syndrome protein homolog
, WAP four-disulfide core domain protein 18
, extracellular peptidase inhibitor
, extracellular proteinase inhibitor