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Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia
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참고문헌 (12)
- Visinoni AF, "Ectodermal dysplasias: clinical and molecular review", Am J Med Genet A, 149A, pp.1980~2002 (2009)
- Cluzeau C, "Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic", anhidrotic ectodermal dysplasia cases, 2011, pp.32, 70~72
- Schneider P, "Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A", J Biol Chem, 276, pp.18819~18827 (2001)
- Vincent MC, "Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia", Eur J Hum Genet, 9, pp.355~363 (2001)
- Bashyam MD, "A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India", Br J Dermatol, 166, pp.819~829 (2012)
- Clauss F, "X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings", Clin Genet, 78, pp.257~266 (2010)
- Ewing B, "Base-calling of automated sequencer traces using phred. I. Accuracy assessment", Genome Res, 8, pp.175~185 (1998)
- Moya-Quiles MR, "A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia", Arch Dermatol Res, 302, pp.307~310 (2010)
- Monreal AW, "Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations", Am J Hum Genet, 63, pp.380~389 (1998)
- RamaDevi AR, "Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes", Br J Dermatol, 158, pp.163~167 (2008)
- "The Human Gene Mutation Database (Internet)" (2014)[URL]
- Huttner K, "Future developments in XLHED treatment approaches", Am J Med Genet A, 164A, pp.2433~2436 (2014)
관련 논문AI추천
One Mutation of the ED1 Gene in a Chinese Han Family with X-Linked Hypohidrotic Ectodermal DysplasiaHua-Yang Tang, Jing Wang, Jun Zhu, Sen Yang, Wei-Wei Ha, Xian-Fa Tang, Xian-Yong Yin, Xue-Jun Zhang대한피부과학회 · Annals of Dermatology2014 · 제26권 제1호Acquired Dermal Melanocytosis Occurring in a Patient with Hypohidrotic Ectodermal Dysplasia김동현, 윤문수, 이희정, 현동주대한피부과학회 · Annals of Dermatology2016 · 제28권 제6호Novel PTCH1 Gene Mutation in a Patient with Gorlin‒Goltz SyndromeAyse Serap Karadag, Emin Ozlu, Gozde Yesil, Ibrahim Akalın, Ilkin Zindancı, Necmettin Akdeniz, Sarenur Yılmaz, Seyma Ozkanlı, Tugba Kevser Uzuncakmak대한피부과학회 · Annals of Dermatology2019 · 제31권 제1호Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome SequencingAbdelaziz Elahlafi, Anu Bashamboo, Chaima Ben Fayala, Houda Yacoub Youssef, Kenneth McElreavey, Mariem Chargui, Mohamed Samir Boubaker, Mourad Mokni, Nadia Laroussi, Olfa Messaoud, Sonia Abdelhak대한피부과학회 · Annals of Dermatology2017 · 제29권 제2호Missense Mutations in the CTSC Gene in Saudi Families Segregating Papillon-Lefèvre SyndromeAhmad Almatrafi, Alia M. Albalawi, Fatima Alfadhli, Jamil A. Hashmi, Khushnooda Ramzan, Sulman Basit대한피부과학회 · Annals of Dermatology2020 · 제32권 제1호Compound Heterozygous Mutations with a Novel Variant in Integrin Beta4 Cause Epidermolysis Bullosa with Pyloric Atresia and Urologic Abnormalities김송이, 김수찬, 유대산, 이상은, 이승주연세대학교의과대학 · Yonsei Medical Journal2020 · 제61권 제9호
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