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Kallmann syndrome 1 sequence

Kms, KAL, KAL1, anosmin-1, BBS6
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. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: HAD, FGFR1, CAN, Gonadotropin-Releasing Hormone, ACID
Papers on Kms
Childhood growth in boys with congenital hypogonadotropic hypogonadism.
New
Raivio et al., Helsinki, Finland. In Pediatr Res, Jan 2016
Genetically verified diagnosis of CHH was made in 15 (42%) patients (KAL1, FGFR1, GNRHR or PROK2).
Spectrum of Phenotype and Genotype of Congenital Isolated Hypogonadotropic Hypogonadism in Asian Indians.
New
Shah et al., Aurangābād, India. In Clin Endocrinol (oxf), Jan 2016
DESIGN, SETTING & SUBJECTS: A cohort of 135 IHH probands were characterised phenotypically for reproductive and non reproductive features and screened for rare sequence variations (RSVs) in five genes KAL1, FGFR1, FGF8, GNRHR and KISS1R.
Genetics of Hypogonadotropic Hypogonadism.
Review
New
Kotan et al., In Endocr Dev, Dec 2015
In Kallmann syndrome (KS), according to the presence of certain accompanying clinical features, genetic screening for particular gene(s) may be prioritized: synkinesia (KAL1), dental agenesis (FGF8/FGFR1), bony anomalies (FGF8/FGFR1), and hearing loss (CHD7, SOX10).
Comamonas sp. halotolerant bacterium from industrial zone of Jovein of Sabzevar introduced as good candidate to remove industrial pollution.
New
Mollania et al., Sabzevār, Iran. In Iran J Microbiol, Oct 2015
In this study we isolated and characterized a heavy metals-resistance halophilic bacterial strains from Kal shoor Jovein of Sabzevar, one of the industrial zone of Khorasan-e-Razavi province in Iran and has naturally saline oils.
Study on KAL1 Gene Mutations in Idiopathic Hypogonadotropic Hypogonadism Patients with X-Linked Recessive Inheritance.
Hassanzadeh Nazarabadi et al., Mashhad, Iran. In Int J Mol Cell Med, 2014
KAL1 is the most common mutated gene among these patients.
Shared genetic aetiology of puberty timing between sexes and with health-related outcomes.
Perry et al., Cambridge, United States. In Nat Commun, 2014
Newly implicated genes include two retinoic acid-related receptors, RORB and RXRA, and two genes reportedly disrupted in rare disorders of puberty, LEPR and KAL1.
[Congenital hypogonadotropic hypogonadism and Kallmann syndrome in males].
Review
Young et al., Cluj-Napoca / Kolozsvár, Romania. In Presse Med, 2014
Mutations in KAL1, FGFR1/FGF8/FGF17, PROK2/PROKR2, NELF, CHD7, HS6ST1, WDR11, SEMA3A, SOX10, IL17RD2, DUSP6, SPRY4, and FLRT3 have been associated with KS but sometimes also with its milder hyposmic/normosmic CHH clinical variant.
The adhesion molecule anosmin-1 in neurology: Kallmann syndrome and beyond.
Review
Clemente et al., In Adv Neurobiol, 2013
Anosmin-1 is the glycoprotein encoded by the KAL1 gene and part of the extracellular matrix, which was first identified as defective in human Kallmann syndrome (KS, characterised by hypogonadotropic hypogonadism and anosmia); biochemically it is a cell adhesion protein.
Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes.
Review
Beckers et al., Liège, Belgium. In Front Endocrinol (lausanne), 2013
KS is associated with mutations in KAL1, FGFR1/FGF8, FGF17, IL17RD, PROK2/PROKR2, NELF, CHD7, HS6ST1, FLRT3, SPRY4, DUSP6, SEMA3A, NELF, and WDR11 genes that are related to defects in neuronal migration.
Kallmann syndrome in women: from genes to diagnosis and treatment.
Review
Genazzani et al., Poznań, Poland. In Gynecol Endocrinol, 2013
These genes can be listed in chronological order: KAL1, FGFR1, FGF8, CHD7, PROKR2 and PROK2.
Positive and negative signaling through SLAM receptors regulate synapse organization and thresholds of cytolysis.
Impact
GeneRIF
Schwartzberg et al., Bethesda, United States. In Immunity, 2012
In the absence of SAP, signaling through the SLAM family members Ly108 and 2B4 resulted in increased recruitment of the SHP-1 phosphatase, associated with altered SHP-1 localization and decreased activation of Src kinases at the synapse.
The receptor Ly108 functions as a SAP adaptor-dependent on-off switch for T cell help to B cells and NKT cell development.
Impact
GeneRIF
Crotty et al., Los Angeles, United States. In Immunity, 2012
Ly 108 deletion in T4 cells reversed the Sh2d1a(-/-) phenotype, eliminating the SAP requirement for germinal centers and restoring NKT-cell differentiation. This required immunotyrosine switch motifs (ITSMs) & SHP-1 recruitment.
Characterization of Ly108 in the thymus: evidence for distinct properties of a novel form of Ly108.
GeneRIF
Schwartzberg et al., Washington, D.C., United States. In J Immunol, 2012
3 isoforms of Ly108 mRNA & protein are differentially expressed in the thymi of C57BL/6 & 129S6 mice expressing the lupus-resistant & lupus-prone haplotypes of Ly108, respectively. Ly108-H1 is a decoy isoform.
Increased expression of SLAM receptors SLAMF3 and SLAMF6 in systemic lupus erythematosus T lymphocytes promotes Th17 differentiation.
GeneRIF
Tsokos et al., Boston, United States. In J Immunol, 2012
SLAMF3 and SLAMF6 T cell surface expression and IL-17 levels significantly correlate with disease activity in systemic lupus erythematosus patients
FGF-2 and Anosmin-1 are selectively expressed in different types of multiple sclerosis lesions.
GeneRIF
de Castro et al., Toledo, Spain. In J Neurosci, 2011
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
A genetic basis for functional hypothalamic amenorrhea.
Impact
Pitteloud et al., Boston, United States. In N Engl J Med, 2011
RESULTS: Six heterozygous mutations were identified in 7 of the 55 patients with hypothalamic amenorrhea: two variants in the fibroblast growth factor receptor 1 gene FGFR1 (G260E and R756H), two in the prokineticin receptor 2 gene PROKR2 (R85H and L173R), one in the GnRH receptor gene GNRHR (R262Q), and one in the Kallmann syndrome 1 sequence gene KAL1 (V371I).
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response.
Impact
Katsanis et al., Baltimore, United States. In Nat Genet, 2007
Here we show that bbs1, bbs4 and mkks (also known as bbs6), which encode basal body proteins, are required for convergence and extension in zebrafish and interact with wnt11 and wnt5b.
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
Impact
GeneRIF
Hardelin et al., Paris, France. In Nat Genet, 2003
AL1 gene product, the extracellular matrix protein anosmin-1, is involved in FGF signaling
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
Impact
Sheffield et al., Iowa City, United States. In Nat Genet, 2002
Cases of BBS mapping ro BBS6 are caused by mutations in MKKS; mutations in this gene also cause McKusick-Kaufman syndrome (hydrometrocolpos, post-axial polydactyly and congenital heart defects).
Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons.
Impact
Petit et al., Paris, France. In Cell, 2002
The physiological role of anosmin-1, defective in the X chromosome-linked form of Kallmann syndrome, is not yet known.
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