arginine and Anhidrotic Ectodermal Dysplasia

arginine has been researched along with Anhidrotic Ectodermal Dysplasia in 9 studies

Research

Studies (9)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's8 (88.89)29.6817
2010's1 (11.11)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Abdo Filho, RC; Bufalino, A; Coletta, RD; de Miranda, RT; Martelli-Júnior, H; Paranaíba, LM1
Chen, JJ; Cui, Y; Dong, PL; He, PP; Huang, W; Li, YB; Wang, Y; Xiong, XY; Xu, SJ; Yang, S; Zhang, XJ; Zhou, Q1
Camacho, J; Heymann, WR; Honig, PJ; Ilyas, E; Imaizumi, S; Li, W; Pawel, BR; Payne, AS; Schnur, RE; Seykora, JT; Yan, AC; Young, TL1
Ahmad, W; Leal, SM; Lee, K; Naeem, M; Wajid, M1
Aaltonen, M; Brunner, HG; Danesino, C; Duijf, P; Huoponen, K; Kjaer, KW; Kock, M; Larizza, D; Penttinen, M; Rinne, T; Savontaus, ML; Spadoni, E; van Bokhoven, H1
Borges, L; Derry, JM; Jain, A; Kubin, M; Liu, S; Ma, CA; Temmerman, ST1
Adès, LC; Gilmour, E; Graf, N; Holme, SA; Maclean, K; Moss, C; Onikul, E; Scheffer, H; Smith, GH; Taylor, M; van Bokhoven, H1
Aoki, N; Ito, K; Ito, M; Tachibana, T1
Antonarakis, S; Blanchet-Bardon, C; Callouet, E; Christianson, AL; Der Kaloustian, V; Fraser, C; Hand, C; Hayflick, SJ; Kelsell, DP; Kibar, Z; Lamartine, J; Lanneluc, I; Laoudj, D; Lemaître, G; Munhoz Essenfelder, G; Pitaval, A; Radhakrishna, U; Rouleau, GA; Waksman, G; Zonana, J1

Other Studies

9 other study(ies) available for arginine and Anhidrotic Ectodermal Dysplasia

ArticleYear
Ectrodactyly-ectodermal dysplasia-clefting syndrome associated with p63 mutation and an uncommon phenotype.
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association, 2010, Volume: 47, Issue:5

    Topics: Adolescent; Arginine; Cleft Lip; Cleft Palate; Codon; Cytosine; Ectodermal Dysplasia; Exons; Female; Foot Deformities, Congenital; Genotype; Hand Deformities, Congenital; Heterozygote; Humans; Melanosis; Mutation, Missense; Phenotype; Sequence Analysis, Protein; Thymine; Transcription Factors; Tryptophan; Tumor Suppressor Proteins

2010
A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia.
    Journal of dermatological science, 2003, Volume: 32, Issue:1

    Topics: Adult; Amino Acid Substitution; Arginine; Asian People; Connexin 30; Connexins; Ectodermal Dysplasia; Female; Glycine; Humans; Male; Mutation, Missense; Pedigree; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger; Transcription, Genetic

2003
Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: a skin fragility phenotype.
    Archives of dermatology, 2005, Volume: 141, Issue:12

    Topics: Abnormalities, Multiple; Arginine; Cleft Lip; Cleft Palate; DNA-Binding Proteins; Ectodermal Dysplasia; Female; Genes, Tumor Suppressor; Genotype; Humans; Immunohistochemistry; Infant, Newborn; Male; Mutation, Missense; Phenotype; Phosphoproteins; Proline; Skin; Syndrome; Trans-Activators; Transcription Factors; Tumor Suppressor Proteins

2005
A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type.
    Journal of medical genetics, 2006, Volume: 43, Issue:3

    Topics: Arginine; Chromosome Mapping; Chromosomes, Human, Pair 16; Conserved Sequence; Ectodermal Dysplasia; Hair Diseases; Homozygote; Humans; Keratins; Keratins, Hair-Specific; Keratins, Type II; Microsatellite Repeats; Mutation, Missense; Nail Diseases

2006
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.
    European journal of human genetics : EJHG, 2006, Volume: 14, Issue:8

    Topics: Abnormalities, Multiple; Adult; Arginine; Child; Ectodermal Dysplasia; Female; Genes, Tumor Suppressor; Humans; Limb Deformities, Congenital; Male; Middle Aged; Mutation, Missense; Phenotype; Syndrome; Tooth Abnormalities; Transcriptional Activation

2006
Impaired dendritic-cell function in ectodermal dysplasia with immune deficiency is linked to defective NEMO ubiquitination.
    Blood, 2006, Oct-01, Volume: 108, Issue:7

    Topics: Arginine; CD3 Complex; CD40 Antigens; Cell Proliferation; Cysteine; Dendritic Cells; Ectodermal Dysplasia; Exons; Humans; I-kappa B Kinase; Immunologic Deficiency Syndromes; Mutation; Protein Structure, Tertiary; Ubiquitin; Zinc Fingers

2006
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation?
    American journal of medical genetics. Part A, 2007, May-15, Volume: 143A, Issue:10

    Topics: Abnormalities, Multiple; Adult; Arginine; Child, Preschool; Cleft Lip; Cleft Palate; DNA-Binding Proteins; Ectodermal Dysplasia; Female; Fingers; Genotype; Glutamine; Humans; Infant; Male; Middle Aged; Pedigree; Phenotype; Point Mutation; Syndrome; Trans-Activators; Transcription Factors; Tumor Suppressor Proteins; Urination Disorders

2007
A novel arginine-->Serine mutation in EDA1 in a Japanese family with X-linked anhidrotic ectodermal dysplasia.
    The Journal of investigative dermatology, 2000, Volume: 115, Issue:2

    Topics: Amino Acid Substitution; Arginine; Asian People; Child, Preschool; Ectodermal Dysplasia; Genetic Linkage; Humans; Japan; Male; Membrane Proteins; Mutation; Serine; X Chromosome

2000
Mutations in GJB6 cause hidrotic ectodermal dysplasia.
    Nature genetics, 2000, Volume: 26, Issue:2

    Topics: Amino Acid Sequence; Amino Acid Substitution; Animals; Arginine; Chromosome Mapping; Chromosomes, Human, Pair 13; Connexin 30; Connexins; Ectodermal Dysplasia; Female; Glycine; Humans; Male; Mice; Molecular Sequence Data; Mutation, Missense; Pedigree; Sequence Alignment; Sequence Homology, Amino Acid

2000