| Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark. | Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark.
Gram SB, Jørgensen ASF, Bygum A, Brusgaard K, Ousager LB. | 04/10/2024 |
| AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer. | AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer.
Elhaji Y, Hedlin C, Nath A, Price EL, Gallant C, Northgrave S, Hull PR. | 11/28/2020 |
| Study reports the clinical and genetic features of a series of 16 unrelated pedigrees with autosomal dominant punctate palmoplantar keratoderma due to heterozygous mutations, five novel (seven families) and four recurrent (nine families), in AAGAB . | Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB.
Zamiri M, Wilson NJ, Mackenzie A, Sobey G, Leitch C, Smith FJD. | 08/1/2020 |
| In this work, however, we discovered that AP2 adaptor assembly is an ordered process controlled by alpha and gamma adaptin binding protein (AAGAB), an uncharacterized factor identified in our genome-wide genetic screen of clathrin-mediated endocytosis | AAGAB Controls AP2 Adaptor Assembly in Clathrin-Mediated Endocytosis.
Gulbranson DR, Crisman L, Lee M, Ouyang Y, Menasche BL, Demmitt BA, Wan C, Nomura T, Ye Y, Yu H, Shen J., Free PMC Article | 05/16/2020 |
| Identical AAGAB genotypes presented a very broad interfamilial and intrafamilial variability of phenotypes in punctate palmoplantar keratoderma type 1 (Buschke-Fischer-Brauer syndrome). | Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.
Giehl KA, Herzinger T, Wolff H, Sárdy M, von Braunmühl T, Dekeuleneer V, Sznajer Y, Tennstedt D, Boes P, Rapprich S, Wagner N, Betz RC, Braun-Falco M, Strom T, Ruzicka T, Eckstein GN. | 01/28/2017 |
| we report two unrelated Japanese punctate palmoplantar keratoderma type 1 pedigrees harboring the novel AAGAB mutation c.191_194del-CAAA. | Two Japanese familial cases of punctate palmoplantar keratoderma caused by a novel AAGAB mutation, c.191_194delCAAA.
Akasaka E, Okawa Y, Nakano H, Takiyoshi N, Rokunohe D, Toyomaki Y, Sawamura D, Sueki H. | 02/20/2016 |
| Case Report: novel AAGAB mutation in punctate palmoplantar keratoderma type I. | Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate.
Nomura T, Yoneta A, Pohler E, Suzuki S, Osawa R, Mizuno O, Ohguchi Y, Nomura Y, Yamashita T, McLean WH, Shimizu H. | 09/26/2015 |
| results reveal one novel and two recurrent mutations in AAGAB providing further evidence of its role in the pathogenesis of palmoplantar keratoderma. | New and recurrent AAGAB mutations in punctate palmoplantar keratoderma.
Pohler E, Huber M, Boonen SE, Zamiri M, Gregersen PA, Sommerlund M, Ramsing M, Hohl D, McLean WH, Smith FJ., Free PMC Article | 05/16/2015 |
| case Report: deletion mutation in AAGAB causing punctate palmoplantar keratoderma in Chinese family. | A novel 5-bp deletion mutation in AAGAB gene in a Chinese family with punctate palmoplantar keratoderma.
Li M, Dai X, Cheng R, Yang L, Yao Z, Liu J. | 01/3/2015 |
| This observation suggests either the existence of a CDH-associated gene in the vicinity of AAGAB, or a hitherto unrecognized role for p34 during skeletal development. | A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family.
Eytan O, Sarig O, Israeli S, Mevorah B, Basel-Vanagaite L, Sprecher E. | 11/8/2014 |
| families with type 1 punctate palmoplantar keratoderma have distinct mutations in AAGAB | Identification of distinct mutations in AAGAB in families with type 1 punctate palmoplantar keratoderma.
Furniss M, Higgins CA, Martinez-Mir A, Horev L, Petukhova L, Stanimirović A, Miljković J, Zlotogorski A, Christiano AM., Free PMC Article | 07/12/2014 |
| Results identify novel loss-of-function mutation within AAGAB associated with PPPK was identified from two Chinese pedigrees. | Loss-of-function mutation in AAGAB in Chinese families with punctuate palmoplantar keratoderma.
Li M, Yang L, Shi H, Guo B, Dai X, Yao Z, Zhang G. | 02/1/2014 |
| analysis of the AAGAB genotype in 12 Punctate palmoplantar keratoderma (PPKP1) patients from 6 independent kindreds of Scottish, English, and Mexican ancestry | Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling.
Pöhler E, Zamiri M, Harkins CP, Salas-Alanis JC, Perkins W, Smith FJD, Irwin McLean WH, Brown SJ., Free PMC Article | 01/11/2014 |
| We identified six mutations in the AAGAB gene in Chinese punctate palmoplantar keratoderma patients. | Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma patients.
Cui H, Gao M, Wang W, Xiao R, Chen G, Zhang Q, Fu H, Zhou Y, Guo B, Dong Y, Shen J, Zhang M, Yue Z, Liu F, Lin D, Gao T, Zhang A, Zhou W, Sun L, Yang S, Wang J, Cui Y, Zhang X. | 12/28/2013 |
| We report the characteristics of a heterozygous AAGAB splice-site mutation in primary keratinocytes. | Novel and recurrent AAGAB mutations: clinical variability and molecular consequences.
Kiritsi D, Chmel N, Arnold AW, Jakob T, Bruckner-Tuderman L, Has C. | 11/30/2013 |
| Identification of two heterozygous nonsense mutations-c.370C>T (p.Arg124) and c.481C>T (p.Arg161)-in AAGAB in patients with punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. | Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.
Giehl KA, Eckstein GN, Pasternack SM, Praetzel-Wunder S, Ruzicka T, Lichtner P, Seidl K, Rogers M, Graf E, Langbein L, Braun-Falco M, Betz RC, Strom TM., Free PMC Article | 04/27/2013 |
| We hypothesize that AAGAB (p34) deficiency may impair endocytic recycling of growth factor receptors such as EGFR, leading to increased signaling and cellular proliferation | Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.
Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran B, Wilson NJ, Smith FJ, Goh CS, Sandilands A, Cole C, Barton GJ, Evans AT, Shimizu H, Akiyama M, Suehiro M, Konohana I, Shboul M, Teissier S, Boussofara L, Denguezli M, Saad A, Gribaa M, Dopping-Hepenstal PJ, McGrath JA, Brown SJ, Goudie DR, Reversade B, Munro CS, McLean WH., Free PMC Article | 04/6/2013 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Polymorphisms in predicted miRNA binding sites and osteoporosis.
Lei SF, Papasian CJ, Deng HW., Free PMC Article | 09/15/2010 |