| Dimerization of the CNNM extracellular domain. | Dimerization of the CNNM extracellular domain.
Shahsavan A, Lee EL, Illes K, Kozlov G, Gehring K., Free PMC Article | 06/26/2024 |
| Novel CNNM4 variant and clinical features of Jalili syndrome. | Novel CNNM4 variant and clinical features of Jalili syndrome.
Rattanapornsompong K, Gavila P, Tungsanga S, Chanakul A, Apivatthakakul A, Tengsujaritkul M, Tongsong T, Theerapanon T, Porntaveetus T, Shotelersuk V. | 01/14/2023 |
| CNNM proteins selectively bind to the TRPM7 channel to stimulate divalent cation entry into cells. | CNNM proteins selectively bind to the TRPM7 channel to stimulate divalent cation entry into cells.
Bai Z, Feng J, Franken GAC, Al'Saadi N, Cai N, Yu AS, Lou L, Komiya Y, Hoenderop JGJ, de Baaij JHF, Yue L, Runnels LW., Free PMC Article | 02/12/2022 |
| Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort. | Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort.
Prasov L, Ullah E, Turriff AE, Warner BM, Conley J, Mark PR, Hufnagel RB, Huryn LA., Free PMC Article | 01/9/2021 |
| The novel identified variant in CNNM4 is the first report from the Pakistani population. Sequence analysis of CNNM4 revealed a novel missense variant (c.1220G>T, p.Arg407Leu) in exon-1 encoding cystathionine-beta-synthase (CBS) domain. | A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations.
Parveen A, Mirza MU, Vanmeert M, Akhtar J, Bashir H, Khan S, Shehzad S, Froeyen M, Ahmed W, Ansar M, Wasif N., Free PMC Article | 05/30/2020 |
| Jalili Syndrome is a rare cone-rod dystrophy (CORD) and amelogenesis imperfecta (AI), We have further characterized its ocular phenotype, including describing SD-OCT, FAF, and electrophysiological features; and report several novel disease-causing sequence variants. | Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta.
Hirji N, Bradley PD, Li S, Vincent A, Pennesi ME, Thomas AS, Heon E, Bhan A, Mahroo OA, Robson A, Inglehearn CF, Moore AT, Michaelides M., Free PMC Article | 12/22/2018 |
| Here, we report the 2 first families with Jalili Syndrome in Brazil. Molecular analysis of the first family identified a previously described homozygous mutation (p.Leu324Pro) in exon 1 of CNNM4 gene. In the second family, affected patients demonstrated a compound heterozygous mutation in CNNM4, the p.Leu324Pro and the novel nonsense mutation p.Tyr581*. | Report of two unrelated families with Jalili syndrome and a novel nonsense heterozygous mutation in CNNM4 gene.
Maia CMF, Machado RA, Gil-da-Silva-Lopes VL, Lustosa-Mendes E, Rim PHH, Dias VO, Martelli DRB, Nasser LS, Coletta RD, Martelli-Júnior H. | 10/13/2018 |
| Results identified linkage at chromosome 2p14-2q14 and found a homozygous mutation in the CNNM4 gene (p.R605X) causing Jalili syndrome. The truncated CNNM4 protein starting at R605 significantly increased the rate of apoptosis, and significantly increased the interaction between CNNM4 and IQCB1. This mutation may cause Jalili syndrome by a nonsense-mediated decay mechanism, affecting the function of IQCB1 and apoptosis. | Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.
Li S, Xi Q, Zhang X, Yu D, Li L, Jiang Z, Chen Q, Wang QK, Traboulsi EI., Free PMC Article | 05/26/2018 |
| Mutational analysis showed in all three brothers a novel likely pathogenic homozygous missense substitution in exon 1 (c.1076T>C, p.(Leu359Pro)) of CNNM4. Both parents were carriers for the variant. | Co-occurrence of Jalili syndrome and muscular overgrowth.
Wawrocka A, Walczak-Sztulpa J, Badura-Stronka M, Owecki M, Kopczynski P, Mrukwa-Kominek E, Skorczyk-Werner A, Gasperowicz P, Ploski R, Krawczynski MR. | 12/2/2017 |
| We describe three siblings with clinical features of Jalili syndrome with a homozygous missense mutation in exon 4 of CNNM4, c.1781A>G (p.N594S). | A new familial case of Jalili syndrome caused by a novel mutation in CNNM4.
Topçu V, Alp MY, Alp CK, Bakır A, Geylan D, Yılmazoğlu MÖ. | 11/18/2017 |
| These results suggest a new role of CNNM4 in sperm Ca(2+) homeostasis. | The Mg2+ transporter CNNM4 regulates sperm Ca2+ homeostasis and is essential for reproduction.
Yamazaki D, Miyata H, Funato Y, Fujihara Y, Ikawa M, Miki H. | 08/5/2017 |
| We identified a novel homozygous deleterious mutation in CNNM4 gene which causes Jalili syndrome. | A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome.
Rahimi-Aliabadi S, Daftarian N, Ahmadieh H, Emamalizadeh B, Jamshidi J, Tafakhori A, Ghaedi H, Noroozi R, Taghavi S, Ahmadifard A, Alehabib E, Andarva M, Shokraeian P, Atakhorrami M, Darvish H., Free PMC Article | 07/15/2017 |
| used Sanger sequencing to analyze a large consanguineous family with three siblings affected with Jalili syndrome, suspected clinically after dental and ophthalmological examination. These patients are carrying a novel homozygous mutation in the splice site acceptor of intron 3 (c.1682-1G > C) in the CNNM4 gene | Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome.
Cherkaoui Jaouad I, Lyahyai J, Guaoua S, El Alloussi M, Zrhidri A, Doubaj Y, Boulanouar A, Sefiani A. | 05/13/2017 |
| these results indicate that CNNM4-dependent Mg(2+) efflux suppresses tumor progression by regulating energy metabolism. | Membrane protein CNNM4-dependent Mg2+ efflux suppresses tumor progression.
Funato Y, Yamazaki D, Mizukami S, Du L, Kikuchi K, Miki H., Free PMC Article | 07/25/2015 |
| The c.1312 dupC mutation of CNNM4 leads to a premature termination of amelogenesis resulting in thin, incompletely mineralized enamel, whereas in dentin, only mineralization is disturbed. | Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene.
Luder HU, Gerth-Kahlert C, Ostertag-Benzinger S, Schorderet DF., Free PMC Article | 02/28/2015 |
| CNNM4 is sorted to the basolateral membrane by the complementary function of AP-1A and AP-1B | Basolateral sorting of the Mg²⁺ transporter CNNM4 requires interaction with AP-1A and AP-1B.
Hirata Y, Funato Y, Miki H. | 02/14/2015 |
| Data indicate that a mutation in the cystathionine-beta-synthase (CBS) domains of ancient conserved domain protein 4/cyclin M4 CNNM4 completely abrogated their Mg2+ efflux functions. | Mg2+-dependent interactions of ATP with the cystathionine-β-synthase (CBS) domains of a magnesium transporter.
Hirata Y, Funato Y, Takano Y, Miki H., Free PMC Article | 11/8/2014 |
| These results demonstrate the crucial importance of Mg(2+) extrusion by CNNM4 in organismal and topical regulation of magnesium. | Basolateral Mg2+ extrusion via CNNM4 mediates transcellular Mg2+ transport across epithelia: a mouse model.
Yamazaki D, Funato Y, Miura J, Sato S, Toyosawa S, Furutani K, Kurachi Y, Omori Y, Furukawa T, Tsuda T, Kuwabata S, Mizukami S, Kikuchi K, Miki H., Free PMC Article | 08/23/2014 |
| Our case shows a unique combination of NF1 and Jalili syndrome; clinical examination, but also of molecular genetic analysis, which together provide a precise diagnosis. | Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1.
Zobor D, Kaufmann DH, Weckerle P, Sauer A, Wissinger B, Wilhelm H, Kohl S. | 03/31/2012 |
| This work describes the purification and preliminary crystallographic analysis of the CBS-pair regulatory domain of the human ancient domain protein 4 (ACDP4), also known as CNNM4. | Purification, crystallization and preliminary crystallographic analysis of the CBS pair of the human metal transporter CNNM4.
Gómez García I, Oyenarte I, Martínez-Cruz LA., Free PMC Article | 07/2/2011 |
| Since CNNM4 is implicated in metal ion transport, cone-rod dystrophy and amelogenesis imperfecta may originate from abnormal ion homeostasis. | Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.
Polok B, Escher P, Ambresin A, Chouery E, Bolay S, Meunier I, Nan F, Hamel C, Munier FL, Thilo B, Mégarbané A, Schorderet DF., Free PMC Article | 01/21/2010 |
| Identification of CNNM4 as the causative gene for Jalili syndrome, characterized by autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. | Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.
Parry DA, Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Bloch-Zupan A, Carlos R, Carr IM, Downey LM, Blain KM, Mansfield DC, Shahrabi M, Heidari M, Aref P, Abbasi M, Michaelides M, Moore AT, Kirkham J, Inglehearn CF., Free PMC Article | 01/21/2010 |