arginine has been researched along with Anhidrotic Ectodermal Dysplasia in 9 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 8 (88.89) | 29.6817 |
2010's | 1 (11.11) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
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Abdo Filho, RC; Bufalino, A; Coletta, RD; de Miranda, RT; Martelli-Júnior, H; Paranaíba, LM | 1 |
Chen, JJ; Cui, Y; Dong, PL; He, PP; Huang, W; Li, YB; Wang, Y; Xiong, XY; Xu, SJ; Yang, S; Zhang, XJ; Zhou, Q | 1 |
Camacho, J; Heymann, WR; Honig, PJ; Ilyas, E; Imaizumi, S; Li, W; Pawel, BR; Payne, AS; Schnur, RE; Seykora, JT; Yan, AC; Young, TL | 1 |
Ahmad, W; Leal, SM; Lee, K; Naeem, M; Wajid, M | 1 |
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, H | 1 |
Borges, L; Derry, JM; Jain, A; Kubin, M; Liu, S; Ma, CA; Temmerman, ST | 1 |
Adès, LC; Gilmour, E; Graf, N; Holme, SA; Maclean, K; Moss, C; Onikul, E; Scheffer, H; Smith, GH; Taylor, M; van Bokhoven, H | 1 |
Aoki, N; Ito, K; Ito, M; Tachibana, T | 1 |
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, J | 1 |
9 other study(ies) available for arginine and Anhidrotic Ectodermal Dysplasia
Article | Year |
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Ectrodactyly-ectodermal dysplasia-clefting syndrome associated with p63 mutation and an uncommon phenotype.
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.
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.
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.
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.
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.
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?
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.
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.
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 |