المؤلفون: Boese EA; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Tollefson MR; Department of Biochemistry, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Schnieders MJ; Department of Biochemistry, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Darbro BW; Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Alward WLM; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Fingert JH; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.

المصدر: Current eye research [Curr Eye Res] 2020 Jan; Vol. 45 (1), pp. 91-96. Date of Electronic Publication: 2019 Aug 14.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 8104312 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2202 (Electronic) Linking ISSN: 02713683 NLM ISO Abbreviation: Curr Eye Res Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Aniridia/*genetics , DNA/*genetics , Diabetes Mellitus, Type 2/*genetics , Obesity, Morbid/*genetics , PAX6 Transcription Factor/*genetics, Aniridia/metabolism ; DNA/metabolism ; DNA Mutational Analysis ; Diabetes Mellitus, Type 2/metabolism ; Female ; Humans ; Male ; Obesity, Morbid/metabolism ; PAX6 Transcription Factor/metabolism ; Pedigree ; Phenotype

المؤلفون: Kinoshita A; Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki 852-8523, Japan., Ohyama K; Department of Pharmacy Practice, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki 852-3131, Japan., Tanimura S; Department of Cell Regulation, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki 852-3131, Japan., Matsuda K; Department of Tumor and Diagnostic Pathology, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki 852-8523, Japan., Kishino T; Gene Research Center, Center for Frontier Life Sciences, Nagasaki University, Nagasaki 852-8523, Japan., Negishi Y; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya 467-8602, Japan., Asahina N; Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo 060-8638, Japan., Shiraishi H; Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo 060-8638, Japan., Hosoki K; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka 594-1101, Japan., Tomiwa K; Department of Pediatrics, Todaiji Ryoiku Hospital for Children, Nara 630-8211, Japan., Ishihara N; Department of Pediatrics, Fujita Health University School of Medicine, Toyoake 470-1192, Japan., Mishima H; Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki 852-8523, Japan., Mori R; Department of Pathology, Nagasaki University School of Medicine and Graduate School of Biomedical Sciences, Nagasaki 852-8523, Japan., Nakashima M; Department of Tumor and Diagnostic Pathology, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki 852-8523, Japan., Saitoh S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya 467-8602, Japan., Yoshiura KI; Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki 852-8523, Japan.

المصدر: Development (Cambridge, England) [Development] 2021 Aug 15; Vol. 148 (16). Date of Electronic Publication: 2021 Aug 26.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Company Of Biologists Limited Country of Publication: England NLM ID: 8701744 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1477-9129 (Electronic) Linking ISSN: 09501991 NLM ISO Abbreviation: Development Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Aniridia/*blood , Aniridia/*genetics , Anterior Eye Segment/*growth & development , Cerebellar Ataxia/*blood , Cerebellar Ataxia/*genetics , Inositol 1,4,5-Trisphosphate Receptors/*genetics , Inositol 1,4,5-Trisphosphate Receptors/*metabolism , Intellectual Disability/*blood , Intellectual Disability/*genetics , Neural Crest/*growth & development, Adolescent ; Animals ; Anterior Eye Segment/metabolism ; Child ; Child, Preschool ; Disease Models, Animal ; Exons ; Female ; Gene Knock-In Techniques ; HEK293 Cells ; Humans ; Infant ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Transgenic ; NIH 3T3 Cells ; Neural Crest/metabolism ; Protein Isoforms/metabolism ; Transfection ; Young Adult

SCR Disease Name: Aniridia cerebellar ataxia mental deficiency

المؤلفون: Keehan L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Jiang MM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Li X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA., Murdock D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA., Hunter JV; Texas Children's Hospital, Houston, Texas, USA.; Department of Radiology, Baylor College of Medicine, Houston, Texas, USA., Heaney JD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Robak L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Emrick L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine (BCM), Houston, Texas, USA.; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, BCM, Houston, Texas, USA., Lotze T; Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine (BCM), Houston, Texas, USA.; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, BCM, Houston, Texas, USA., Blieden LS; Cullen Eye Institute, Department of Ophthalmology, Baylor College of Medicine, Houston, Texas, USA., Lewis RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Cullen Eye Institute, Department of Ophthalmology, Baylor College of Medicine, Houston, Texas, USA., Levin AV; Flaum Eye Institute and Golisano Children's Hospital, Departments of Ophthalmology and Pediatrics, University of Rochester, Rochester, New York, USA., Capasso J; Flaum Eye Institute and Golisano Children's Hospital, Departments of Ophthalmology and Pediatrics, University of Rochester, Rochester, New York, USA., Craigen WJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.

مؤلفون مشاركون: Undiagnosed Diseases Network

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Aug; Vol. 185 (8), pp. 2315-2324. Date of Electronic Publication: 2021 May 05.

نوع المنشور: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies*/methods , Genetic Predisposition to Disease* , Introns* , Mutation*, Aniridia/*diagnosis , Aniridia/*genetics , Cerebellar Ataxia/*diagnosis , Cerebellar Ataxia/*genetics , Inositol 1,4,5-Trisphosphate Receptors/*genetics , Intellectual Disability/*diagnosis , Intellectual Disability/*genetics, Alleles ; Child, Preschool ; DNA Mutational Analysis ; Facies ; Humans ; Inositol 1,4,5-Trisphosphate Receptors/chemistry ; Magnetic Resonance Imaging ; Male ; Phenotype ; Symptom Assessment ; Whole Genome Sequencing

SCR Disease Name: Aniridia cerebellar ataxia mental deficiency

المؤلفون: De Silva D; Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, 8, Sri Lanka., Williamson KA; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Dayasiri KC; Professorial Paediatric Unit, Lady Ridgeway Hospital for Children, Colombo, 08, Sri Lanka., Suraweera N; Professorial Paediatric Unit, Lady Ridgeway Hospital for Children, Colombo, 08, Sri Lanka., Quinters V; Professorial Paediatric Unit, Lady Ridgeway Hospital for Children, Colombo, 08, Sri Lanka., Abeysekara H; Department of Ophthalmology, Lady Ridgeway Hospital for Children, Colombo, 08, Sri Lanka., Wanigasinghe J; Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, 8, Sri Lanka., De Silva D; Department of Physiology, Faculty of Medicine, University of Kelaniya, Kelaniya, Sri Lanka. deepthid@kln.ac.lk., De Silva H; Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, 8, Sri Lanka.

المصدر: BMC pediatrics [BMC Pediatr] 2018 Sep 24; Vol. 18 (1), pp. 308. Date of Electronic Publication: 2018 Sep 24.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Heterozygote* , Mutation*, Aniridia/*genetics , Cerebellar Ataxia/*genetics , Inositol 1,4,5-Trisphosphate Receptors/*genetics , Intellectual Disability/*genetics, Aniridia/diagnosis ; Aniridia/diagnostic imaging ; Brain/diagnostic imaging ; Cerebellar Ataxia/diagnosis ; Cerebellar Ataxia/diagnostic imaging ; Child ; Female ; Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/diagnostic imaging ; Magnetic Resonance Imaging ; Sri Lanka

SCR Disease Name: Aniridia cerebellar ataxia mental deficiency

المؤلفون: Bai Z; Genetic and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Kong X; Genetic and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2018 Nov; Vol. 6 (6), pp. 1053-1067. Date of Electronic Publication: 2018 Oct 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Mosaicism* , Mutation*, Aniridia/*genetics , Gonads/*metabolism , PAX6 Transcription Factor/*genetics, Adolescent ; Adult ; Aniridia/pathology ; Child, Preschool ; Female ; Gonads/pathology ; Humans ; Islets of Langerhans/pathology ; Male ; Middle Aged ; Pedigree

المؤلفون: Syrimis A; Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus., Nicolaou N; Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus., Alexandrou A; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus., Papaevripidou I; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus., Nicolaou M; Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus., Loukianou E; Department of Ophthalmology, Nicosia General Hospital, 2029 Nicosia, Cyprus., Sismani C; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus., Malas S; Department of Developmental and Functional Genetics, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus., Christophidou-Anastasiadou V; Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus., Tanteles GA; Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus.

المصدر: Molecular medicine reports [Mol Med Rep] 2018 Aug; Vol. 18 (2), pp. 1623-1627. Date of Electronic Publication: 2018 Jun 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: D. A. Spandidos Country of Publication: Greece NLM ID: 101475259 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1791-3004 (Electronic) Linking ISSN: 17912997 NLM ISO Abbreviation: Mol Med Rep Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Aniridia/*genetics , Cataract/*genetics , Glaucoma/*genetics , Nystagmus, Congenital/*genetics , PAX6 Transcription Factor/*genetics, Aniridia/complications ; Aniridia/pathology ; Base Sequence ; Cataract/complications ; Cataract/pathology ; Comparative Genomic Hybridization ; Cyprus ; DNA Mutational Analysis ; Exons ; Female ; Forkhead Transcription Factors/genetics ; Gene Expression ; Genetic Heterogeneity ; Genetic Predisposition to Disease ; Glaucoma/complications ; Glaucoma/pathology ; Homeodomain Proteins/genetics ; Humans ; Male ; Nystagmus, Congenital/complications ; Nystagmus, Congenital/pathology ; Pedigree ; Transcription Factors/genetics ; Homeobox Protein PITX2

المؤلفون: Motoda S; Department of Metabolic Medicine, Graduate School of Medicine, Osaka University, Suita, Japan., Fujita S; Department of Metabolic Medicine, Graduate School of Medicine, Osaka University, Suita, Japan., Kozawa J; Department of Metabolic Medicine, Graduate School of Medicine, Osaka University, Suita, Japan., Kimura T; Department of Metabolic Medicine, Graduate School of Medicine, Osaka University, Suita, Japan., Fukui K; Department of Metabolic Medicine, Graduate School of Medicine, Osaka University, Suita, Japan., Ikuno Y; Ikuno Eye Center, Osaka City, Japan., Imagawa A; Department of Metabolic Medicine, Graduate School of Medicine, Osaka University, Suita, Japan., Iwahashi H; Department of Metabolic Medicine, Graduate School of Medicine, Osaka University, Suita, Japan.; Department of Diabetes Care Medicine, Graduate School of Medicine, Osaka University, Suita, Japan., Shimomura I; Department of Metabolic Medicine, Graduate School of Medicine, Osaka University, Suita, Japan.

المصدر: Journal of diabetes investigation [J Diabetes Investig] 2019 Mar; Vol. 10 (2), pp. 552-553. Date of Electronic Publication: 2018 Aug 27.

نوع المنشور: Case Reports; Letter

بيانات الدورية: Publisher: Asian Association for the Study of Diabetes and Blackwell Pub. Asia Country of Publication: Japan NLM ID: 101520702 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2040-1124 (Electronic) Linking ISSN: 20401116 NLM ISO Abbreviation: J Diabetes Investig Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Aniridia/*genetics , Diabetes Mellitus, Type 1/*genetics , PAX6 Transcription Factor/*genetics, Adult ; Aniridia/complications ; Diabetes Mellitus, Type 1/complications ; Female ; Humans ; Male ; Middle Aged ; Pedigree ; Prognosis

المؤلفون: Lee J; Department of Ophthalmology, Severance Hospital, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Korea., Suh Y; Department of Ophthalmology, Severance Hospital, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Korea.; Brain Korea 21 PLUS Project for Medical Science, Yonsei University, Seoul, Korea., Jeong H; Department of Ophthalmology, Severance Hospital, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Korea.; Brain Korea 21 PLUS Project for Medical Science, Yonsei University, Seoul, Korea., Kim GH; Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea., Byeon SH; Department of Ophthalmology, Severance Hospital, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Korea.; Brain Korea 21 PLUS Project for Medical Science, Yonsei University, Seoul, Korea., Han J; Department of Ophthalmology, Gangnam Severance Hospital, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Korea. jinuhan@yuhs.ac., Lim HT; Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. htlim@amc.seoul.kr.

المصدر: Journal of human genetics [J Hum Genet] 2021 Mar; Vol. 66 (3), pp. 333-338. Date of Electronic Publication: 2020 Sep 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Aniridia/*genetics , PAX6 Transcription Factor/*genetics, 5' Untranslated Regions/genetics ; Algorithms ; Causality ; Deep Learning ; Electrophoretic Mobility Shift Assay ; Eye/embryology ; Gene Expression Regulation ; Genes, Reporter ; Homeodomain Proteins/metabolism ; Humans ; Introns/genetics ; Molecular Sequence Annotation ; PAX6 Transcription Factor/biosynthesis ; PAX6 Transcription Factor/physiology ; Recombinant Proteins/genetics ; Sequence Deletion ; Whole Genome Sequencing

المؤلفون: Pérez-Solórzano S; Genetics Department, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Chacón-Camacho OF; Genetics Department, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Astiazarán MC; Genetics Department, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Ledesma-Gil G; Retina Department, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Zenteno JC; Genetics Department, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico.

المصدر: Clinical & experimental ophthalmology [Clin Exp Ophthalmol] 2017 Dec; Vol. 45 (9), pp. 875-883. Date of Electronic Publication: 2017 Jun 15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Pub. Asia Country of Publication: Australia NLM ID: 100896531 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1442-9071 (Electronic) Linking ISSN: 14426404 NLM ISO Abbreviation: Clin Exp Ophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Aniridia/*genetics , DNA/*genetics , PAX6 Transcription Factor/*genetics, Adolescent ; Adult ; Alleles ; Aniridia/epidemiology ; Aniridia/metabolism ; Child ; Child, Preschool ; DNA Mutational Analysis ; Female ; Genetic Heterogeneity ; Humans ; Incidence ; Male ; Mexico/epidemiology ; Middle Aged ; PAX6 Transcription Factor/metabolism ; Phenotype ; Young Adult

المؤلفون: Landsend ES; Department of Ophthalmology, Oslo University Hospital, Oslo, Norway; Faculty of Medicine, University of Oslo, Oslo, Norway. Electronic address: elandsend@gmail.com., Utheim ØA; Department of Ophthalmology, Oslo University Hospital, Oslo, Norway., Pedersen HR; Faculty of Health and Social Sciences, National Centre for Optics, Vision and Eye Care, University College of Southeast Norway, Kongsberg, Norway., Lagali N; Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden., Baraas RC; Faculty of Health and Social Sciences, National Centre for Optics, Vision and Eye Care, University College of Southeast Norway, Kongsberg, Norway., Utheim TP; Department of Ophthalmology, Oslo University Hospital, Oslo, Norway; Faculty of Health and Social Sciences, National Centre for Optics, Vision and Eye Care, University College of Southeast Norway, Kongsberg, Norway; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.

المصدر: Survey of ophthalmology [Surv Ophthalmol] 2018 Jan - Feb; Vol. 63 (1), pp. 105-113. Date of Electronic Publication: 2017 Sep 18.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Science Country of Publication: United States NLM ID: 0404551 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-3304 (Electronic) Linking ISSN: 00396257 NLM ISO Abbreviation: Surv Ophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Aniridia/*genetics , PAX6 Transcription Factor/*genetics, Aniridia/metabolism ; Carrier Proteins/genetics ; Forkhead Transcription Factors/genetics ; Homeodomain Proteins/genetics ; Humans ; Intracellular Signaling Peptides and Proteins ; PAX6 Transcription Factor/metabolism ; Paired Box Transcription Factors/genetics ; Phenotype ; Tripartite Motif Proteins