| Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey. | Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.
Yilmaz Gulec E, Turgut GT, Gezdirici A, Karaman V, Ozturk FN, Avci S, Kalayci T, Senturk L, Ayaz A, Kayserili H, Uyguner ZO, Altunoğlu U. | 08/13/2022 |
| A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features. | A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features.
Cheraghi S, Moghbelinejad S, Najmabadi H, Kahrizi K, Najafipour R. | 01/2/2021 |
| Study found novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa | Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa.
Oh JK, Lima de Carvalho JR Jr, Sun YJ, Ragi S, Yang J, Levi SR, Ryu J, Bassuk AG, Mahajan VB, Tsang SH., Free PMC Article | 08/1/2020 |
| A novel nonsense mutation in KLHL7 was identified in two siblings with multiple dysmorphic features and developmental delay. | Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.
Jeffries L, Olivieri JE, Ji W, Spencer-Manzon M, Bale A, Konstantino M, Lakhani SA. | 01/25/2020 |
| KLHL7 appears to play an important role in BC progression. High KLHL7 protein expression identified a subgroup of BC with aggressive behaviour and provided independent prognostic information. | Clinical and biological roles of Kelch-like family member 7 in breast cancer: a marker of poor prognosis.
Kurozumi S, Joseph C, Sonbul S, Gorringe KL, Pigera M, Aleskandarany MA, Diez-Rodriguez M, Nolan CC, Fujii T, Shirabe K, Kuwano H, Storr S, Martin SG, Ellis IO, Green AR, Rakha EA. | 03/9/2019 |
| We have expanded the clinical spectrum of KLHL7 autosomal recessive variants by describing a syndrome with features overlapping CS/CISS1 and BOS. | Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.
Bruel AL, Bigoni S, Kennedy J, Whiteford M, Buxton C, Parmeggiani G, Wherlock M, Woodward G, Greenslade M, Williams M, St-Onge J, Ferlini A, Garani G, Ballardini E, van Bon BW, Acuna-Hidalgo R, Bohring A, Deleuze JF, Boland A, Meyer V, Olaso R, Ginglinger E, Study D, Rivière JB, Brunner HG, Hoischen A, Newbury-Ecob R, Faivre L, Thauvin-Robinet C, Thevenon J. | 07/7/2018 |
| KLHL7 is a novel regulator of the nucleolus associated with TUT1 ubiquitination, and pathogenic KLHL7 mutants may provide valuable information to elucidate a mechanism of retinitis pigmentosa etiology. | KLHL7 promotes TUT1 ubiquitination associated with nucleolar integrity: Implications for retinitis pigmentosa.
Kim J, Tsuruta F, Okajima T, Yano S, Sato B, Chiba T. | 11/26/2017 |
| data further support the pathogenic role of KLHL7 mutations in a CS/CISS1-like phenotype--but they do not explain all their clinical manifestations and highlight the high phenotypic heterogeneity associated with mutations in KLHL7 | Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
Angius A, Uva P, Buers I, Oppo M, Puddu A, Onano S, Persico I, Loi A, Marcia L, Höhne W, Cuccuru G, Fotia G, Deiana M, Marongiu M, Atalay HT, Inan S, El Assy O, Smit LM, Okur I, Boduroglu K, Utine GE, Kılıç E, Zampino G, Crisponi G, Crisponi L, Rutsch F., Free PMC Article | 05/20/2017 |
| The phenotypes are similar among patients with 3 types of KLHL7 mutations (c.458C>T, c.449G>A, and c.457G>A). | Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7.
Wen Y, Locke KG, Klein M, Bowne SJ, Sullivan LS, Ray JW, Daiger SP, Birch DG, Hughbanks-Wheaton DK., Free PMC Article | 01/14/2012 |
| KLHL7 forms a dimer, assembles with Cul3 through its BTB and BACK domains, and exerts E3 activity. | Ubiquitin ligase activity of Cul3-KLHL7 protein is attenuated by autosomal dominant retinitis pigmentosa causative mutation.
Kigoshi Y, Tsuruta F, Chiba T., Free PMC Article | 11/26/2011 |
| Observed in 2 Scandinavian families to date, KLHL7 mutation has recently been associated with autosomal dominant retinitis pigmentosa. | Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene.
Hugosson T, Friedman JS, Ponjavic V, Abrahamson M, Swaroop A, Andréasson S. | 06/28/2010 |
| Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. | Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.
Friedman JS, Ray JW, Waseem N, Johnson K, Brooks MJ, Hugosson T, Breuer D, Branham KE, Krauth DS, Bowne SJ, Sullivan LS, Ponjavic V, Gränse L, Khanna R, Trager EH, Gieser LM, Hughbanks-Wheaton D, Cojocaru RI, Ghiasvand NM, Chakarova CF, Abrahamson M, Göring HH, Webster AR, Birch DG, Abecasis GR, Fann Y, Bhattacharya SS, Daiger SP, Heckenlively JR, Andréasson S, Swaroop A., Free PMC Article | 01/21/2010 |
| The present results indicate that KLHL7 antibodies are associated with various cancers, and in some patients also with neurological disease. Whether KLHL7 antibodies can be used as paraneoplastic markers for PNS remains to be determined. | Detection of autoantibodies to the BTB-kelch protein KLHL7 in cancer sera.
Bredholt G, Storstein A, Haugen M, Krossnes BK, Husebye E, Knappskog P, Vedeler CA. | 01/21/2010 |