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1. Full Text Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica
by Onoufriadis, Alexandros and Hsu, Chao-Kai and Eide, Cindy R and Nanda, Arti and Orchard, Guy E and Tomita, Kenji and Sheriff, Adam and Scott, William and Tierney, Chloe and Lee, John Y.W and Gomaa, Nesrin S and Desomchoke, Rasthawathana and Lwin, Su M and Tu, Wei-Ting and Chen, Liang-Yu and Huang, Hsin-Yu and Chao, Sheau-Chiou and Yu-Yun Lee, Julia and Bare, Yonis and Hayday, Thomas and Guy, Alyson L and Liu, Lu and Lees, Chris and Hirdler, Tessa and Lovell, Patricia and Xia, Lily and Dayrit, Johannes F and Calonje, Eduardo and Simpson, Michael A and Tolar, Jakub and Parsons, Maddy and McGrath, John A
Journal of Investigative Dermatology, ISSN 0022-202X, 12/2019, Volume 139, Issue 12, pp. 2550 - 2554.e9
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2. Full Text Homozygous nonsense mutation in DSC3 resulting in skin fragility and hypotrichosis
by Onoufriadis, Alexandros and Ahmed, Noha and Besser, Hagar and Guy, Alyson and Liu, Lu and Marantzidis, Alexandros and Kesidou, Evangelia and Papanikolaou, Maria and Simpson, Michael A and Mellerio, Jemima E and Lee, John Y.W and McGrath, John A
Journal of Investigative Dermatology, ISSN 0022-202X, 11/2019
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3. Full Text Lichen planus and lichenoid dermatoses
by Tziotzios, Christos and Lee, John Y.W and Brier, Timothy and Saito, Ryo and Hsu, Chao-Kai and Bhargava, Kapil and Stefanato, Catherine M and Fenton, David A and McGrath, John A
Journal of the American Academy of Dermatology, ISSN 0190-9622, 11/2018, Volume 79, Issue 5, pp. 789 - 804
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4. Full Text Lichen planus and lichenoid dermatoses
by Tziotzios, Christos and Brier, Timothy and Lee, John Y.W and Saito, Ryo and Hsu, Chao-Kai and Bhargava, Kapil and Stefanato, Catherine M and Fenton, David A and McGrath, John A
Journal of the American Academy of Dermatology, ISSN 0190-9622, 11/2018, Volume 79, Issue 5, pp. 807 - 818
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5. Full Text Lichen planus and lichenoid dermatoses: Clinical overview and molecular basis
by Tziotzios, Christos and Lee, John Y.W and Brier, Timothy and Saito, Ryo and Hsu, Chao-Kai and Bhargava, Kapil and Stefanato, Catherine M and Fenton, David A and McGrath, John A
Journal of the American Academy of Dermatology, ISSN 0190-9622, 11/2018, Volume 79, Issue 5, pp. 789 - 804
Deriving from the Greek word λειχήν for “tree moss” and the Latin word planus for “planar,” lichen planus is a relatively uncommon and heterogeneous cutaneous... 
lichenoid variants | lichenoid inflammation | molecular basis of lichenoid inflammation | lichen planus | PSYCHOLOGICAL STRESS | IMMUNOHISTOCHEMICAL EXPRESSION | DRUG ERUPTION | MAJOR HISTOCOMPATIBILITY COMPLEX | DERMATOLOGY | PLASMACYTOID DENDRITIC CELLS | HEPATITIS-C VIRUS | CONTACT-DERMATITIS | SQUAMOUS-CELL CARCINOMA | TERM-FOLLOW-UP | EXTRACELLULAR-MATRIX PROTEIN-1 | Immunohistochemistry | Severity of Illness Index | Lichen Planus - therapy | Prognosis | Humans | Middle Aged | Risk Factors | Male | Skin Diseases - pathology | Lichen Planus - pathology | Lichen Planus, Oral - therapy | Lichenoid Eruptions - pathology | Disease Progression | Skin Diseases - diagnosis | Lichen Planus, Oral - pathology | Lichen Sclerosus et Atrophicus | Lichenoid Eruptions - diagnosis | Adult | Female | Lichen Planus - diagnosis | Biopsy, Needle | Chronic Disease | Continuing medical education | Histocompatibility antigens | Interleukins | HLA histocompatibility antigens | Interferon | Single nucleotide polymorphisms | Biological response modifiers | Hepatitis C virus | Hepatitis C | Lichen planus
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6. Full Text Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
by Lee, John Y.W and Liu, Lu and Hsu, Chao-Kai and Aristodemou, Sophia and Ozoemena, Linda and Ogboli, Malobi and Moss, Celia and Martinez, Anna E and Mellerio, Jemima E and McGrath, John A
Journal of Investigative Dermatology, ISSN 0022-202X, 06/2017, Volume 137, Issue 6, pp. 1378 - 1380
SKIN FRAGILITY | DERMATOLOGY
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7. Full Text Coagulation Factor XIII-A Subunit Missense Mutation in the Pathobiology of Autosomal Dominant Multiple Dermatofibromas
by Supsrisunjai, Chavalit and Hsu, Chao-Kai and Michael, Magdalene and Duval, Cédric and Lee, John Y W and Yang, Hsing-San and Huang, Hsin-Yu and Chaikul, Thitiwat and Onoufriadis, Alexandros and Steiner, Roberto A and Ariëns, Robert A S and Sarig, Ofer and Sprecher, Eli and Schwartz-Eskin, Marina and Samlaska, Curt and Simpson, Michael A and Calonje, Eduardo and Parsons, Maddy and McGrath, John A
The Journal of investigative dermatology, ISSN 0022-202X, 09/2019
Dermatofibromas are common benign skin lesions, the etiology of which is poorly understood. We identified two unrelated pedigrees in which there was autosomal... 
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8. Full Text Lichen planus and lichenoid dermatoses: Conventional and emerging therapeutic strategies
by Tziotzios, Christos and Brier, Timothy and Lee, John Y.W and Saito, Ryo and Hsu, Chao-Kai and Bhargava, Kapil and Stefanato, Catherine M and Fenton, David A and McGrath, John A
Journal of the American Academy of Dermatology, ISSN 0190-9622, 11/2018, Volume 79, Issue 5, pp. 807 - 818
Having reviewed the diverse clinical subtypes of lichenoid disease and the postulated molecular basis thereof in the first article in this 2-part continuing... 
emerging drugs for lichenoid inflammation | lichen planus therapeutics | lichenoid variant therapeutics | CLINICAL-TRIAL | RANDOMIZED CONTROLLED-TRIAL | FRONTAL FIBROSING ALOPECIA | GRISEOFULVIN THERAPY | DERMATOLOGY | DOUBLE-BLIND | TERM-FOLLOW-UP | CASE-SERIES | TOPICAL CALCINEURIN INHIBITORS | OF-THE-LITERATURE | MYCOPHENOLATE-MOFETIL | Lichenoid Eruptions - therapy | Severity of Illness Index | Lichen Planus - therapy | Prognosis | Risk Assessment | Calcineurin Inhibitors - administration & dosage | Humans | Lichen Planus, Oral - diagnosis | Male | Treatment Outcome | Combined Modality Therapy | Lichen Planus, Oral - therapy | Phototherapy - methods | Lichenoid Eruptions - diagnosis | Female | Lichen Planus - diagnosis | Administration, Topical | Immunosuppressive Agents - administration & dosage | Adrenal Cortex Hormones - administration & dosage | Continuing medical education | Lichen planus | Health aspects | Phototherapy
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9. Full Text Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia
by Takeichi, Takuya and Torrelo, Antonio and Lee, John Y.W and Ohno, Yusuke and Lozano, María Luisa and Kihara, Akio and Liu, Lu and Yasuda, Yuka and Ishikawa, Junko and Murase, Takatoshi and Rodrigo, Ana Belén and Fernández-Crehuet, Pablo and Toi, Yoichiro and Mellerio, Jemima and Rivera, José and Vicente, Vicente and Kelsell, David P and Nishimura, Yutaka and Okuno, Yusuke and Kojima, Daiei and Ogawa, Yasushi and Sugiura, Kazumitsu and Simpson, Michael A and McLean, W.H. Irwin and Akiyama, Masashi and McGrath, John A
Journal of Investigative Dermatology, ISSN 0022-202X, 11/2017, Volume 137, Issue 11, pp. 2344 - 2353
Mutations in ceramide biosynthesis pathways have been implicated in a few Mendelian disorders of keratinization, although ceramides are known to have key roles... 
RECESSIVE CONGENITAL ICHTHYOSIS | 3-KETODIHYDROSPHINGOSINE REDUCTASE | MEMBRANE | BARRIER FORMATION | DERMATOLOGY | Immunohistochemistry | Severity of Illness Index | Genetic Predisposition to Disease | Prognosis | Keratoderma, Palmoplantar - genetics | Humans | Male | Sampling Studies | Ceramides - biosynthesis | Thrombocytopenia - complications | Alcohol Oxidoreductases - genetics | Keratoderma, Palmoplantar - complications | Young Adult | Keratoderma, Palmoplantar - pathology | Pedigree | Adolescent | Alleles | Thrombocytopenia - diagnosis | Biopsy, Needle | Mutation | In Vitro Techniques | Child | DHS, dihydrosphingosine | KDS, 3-ketodihydrosphingosine | S1P, sphingosine-1-phosphate
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10. Full Text Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23
by Lee, Julia Y.Y and Lee, John Y.W and Hsu, Chao-Kai and Michael, Magdalene and Nanda, Arti and Liu, Lu and McMillan, James R and Pourreyron, Celine and Takeichi, Takuya and Tolar, Jakub and Reid, Evan and Hayday, Thomas and Blumen, Sergiu C and Abu-Mouch, Saif and Straussberg, Rachel and Basel-Vanagaite, Lina and Barhum, Yael and Zouabi, Yasmin and Al-Ajmi, Hejab and Huang, Hsin-Yu and Lin, Ting-Chien and Akiyama, Masashi and McLean, W.H. Irwin and Simpson, Michael A and Parsons, Maddy and McGrath, John A
The American Journal of Human Genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 364 - 370
SPG23 is an autosomal-recessive neurodegenerative subtype of lower limb spastic paraparesis with additional diffuse skin and hair dyspigmentation at birth... 
mutation | pigmentation | DSTYK | hereditary spastic paraplegia | deletion | gene | vitiligo | autosomal-recessive | Spastic Paraplegia 23 | whole-exome sequencing | Physiological aspects | Paraplegia | Genetic aspects | Research | Gene mutations | Risk factors | Report
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11. Full Text Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility
by Lee, John Y.W and Farag, Assem and Tawdy, Amira and Liu, Lu and Michael, Magdalene and Rashidghamat, Ellie and Aristodemou, Sophia and Hsu, Chao-Kai and Simpson, Michael A and Parsons, Maddy and McGrath, John A
Journal of Dermatological Science, ISSN 0923-1811, 02/2018, Volume 89, Issue 2, pp. 198 - 201
DESMOGLEIN | SEVERE DERMATITIS | DOMAIN | MULTIPLE ALLERGIES | DOMINANT | SAM SYNDROME | STRIATE PALMOPLANTAR KERATODERMA | DELETION | DERMATOLOGY | Loss of Function Mutation | Keratoderma, Palmoplantar - genetics | RNA Splice Sites - genetics | Humans | gamma Catenin - metabolism | Whole Exome Sequencing | Young Adult | Homozygote | Desmoglein 1 - genetics | Biopsy | DNA Mutational Analysis | Keratoderma, Palmoplantar - pathology | Adult | Female | Skin - pathology
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12. Full Text Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3
by Hsu, Chao-Kai and Romano, Maria Teresa and Nanda, Arti and Rashidghamat, Ellie and Lee, Julia Yu-Yun and Lee, John Y.W and Huang, Hsin-Yu and Songsantiphap, Chankiat and Al-Ajmi, Hejab and Betz, Regina C and Simpson, Michael A and McGrath, John A and Tziotzios, Christos
Journal of Investigative Dermatology, ISSN 0022-202X, 05/2017, Volume 137, Issue 5, pp. 1176 - 1179
DISORDERS | R-SPONDIN-4 RSPO4 | ECTODERMAL DYSPLASIA | GENES | DERMATOLOGY
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13. Full Text Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45
by Straussberg, Rachel and Onoufriadis, Alexandros and Konen, Osnat and Zouabi, Yasmin and Cohen, Lior and Lee, John Y.W and Hsu, Chao‐Kai and Simpson, Michael A and McGrath, John A
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2017, Volume 173, Issue 11, pp. 3109 - 3113
SPG45 is a rare form of autosomal recessive spastic paraplegia associated with mental retardation. Detailed phenotyping and mutation analysis was undertaken in... 
exome sequencing | NT5C2 | SPG45 | hereditary spastic paraplegias | REPLICATION | GENETICS & HEREDITY | Spastic Paraplegia, Hereditary - genetics | 5'-Nucleotidase - genetics | Humans | Male | DNA Mutational Analysis - methods | Whole Exome Sequencing - methods | Intellectual Disability - genetics | Intellectual Disability - physiopathology | Young Adult | Homozygote | Pedigree | Adolescent | Adult | Female | Consanguinity | Mutation | Codon, Nonsense - genetics | Spastic Paraplegia, Hereditary - physiopathology | Genetic aspects | Mental illness | Paralysis, Spastic | Analysis | Hereditary spastic paraplegia | Paraplegia | Missense mutation | Phenotyping | Paralysis | Spastic paraplegia
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14. Full Text Ectodermal dysplasia–skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1
by Hsu, Chao-Kai and Liu, Lu and Can, Pelin K and Kocatürk, Emek and McMillan, James R and Güngör, Şule and Hürdoğan, Özge and Sargan, Aytul and Degirmentepe, Ece N and Lee, John Y.W and Simpson, Michael A and McGrath, John A
Journal of Dermatological Science, ISSN 0923-1811, 2016, Volume 84, Issue 2, pp. 210 - 212
Dermatology | ADHESION | PLAKOPHILIN 1 | DERMATOLOGY | RNA Splice Sites | Alternative Splicing | Skin Diseases - genetics | Exons | Introns | Plakophilins - genetics | Humans | Reverse Transcriptase Polymerase Chain Reaction | Homozygote | Turkey | Adult | Female | Ectodermal Dysplasia - genetics | Mutation | Binding Sites | Medical colleges | Dysplasia | Genetic aspects | Skin
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15. Full Text DESIGN, SYNTHESIS AND IN VIVO ACTIONS OF A NOVEL DESIGNER NATRIURETIC PEPTIDE, BUA-NP: 147
by Lee, Candace Y.W and Burnett, John C
The Journal of Clinical Pharmacology, ISSN 0091-2700, 09/2008, Volume 48, Issue 9, pp. 1133 - 1133
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16. Full Text DESIGN, SYNTHESIS AND CARO1ORENAL ACTIONS OF A NOVEL PEPTIDE, CDD-NP: 143
by Lee, Candace Y.W and Burnett, John C
The Journal of Clinical Pharmacology, ISSN 0091-2700, 09/2008, Volume 48, Issue 9, pp. 1132 - 1132
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17. Full Text Engineered Mutation of Human B-Type Natriuretic Peptide To Preserve Renal Perfusion Pressure
by Lee, Candace Y.W and Burnett, John C
Journal of Cardiac Failure, ISSN 1071-9164, 2008, Volume 14, Issue 6, pp. S3 - S4
Cardiovascular
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18. Full Text EVALUATION OF A NOVEL DESIGNER PEPTIDE, CU-NP, IN HUMAN AORTIC ENDOTHELIAL CELLS AND IN VIVO: 144
by Lee, Candace Y.W and K, Brenda and Sandberg, Sharon M and Heublein, Denise M and Burnett, John C
The Journal of Clinical Pharmacology, ISSN 0091-2700, 09/2008, Volume 48, Issue 9, pp. 1132 - 1132
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19. Full Text Confluent hepatic fibrosis mimicking malignant hepatic neoplasm on ultrasonography
: Confluent hepatic fibrosis on USG
by Pang, Kit-Yi and Liu, Shirley Y.W and Lee, Kit-Fai and Wong, John and Ng, Wilson W.C and Chau, Luen-Fai and Lai, Paul B.S
Surgical Practice, ISSN 1744-1625, 05/2010, Volume 14, Issue 2, pp. 61 - 63
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20. Full Text HEMOCONCENTRATWG EFFECTS OF TWO NOVEL DESIGNER NATRIURETIC PEPTIDES, CU-NP and CBB-NP: 146
by Lee, Candace Y.W and Harty, Gail J and Burnett, John C
The Journal of Clinical Pharmacology, ISSN 0091-2700, 09/2008, Volume 48, Issue 9, pp. 1133 - 1133
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