John A McGrath

John A McGrath

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John A McGrath

Publications by authors named "John A McGrath"

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Human Mesenchymal Stromal Cells Engineered to Express Collagen VII Can Restore Anchoring Fibrils in Recessive Dystrophic Epidermolysis Bullosa Skin Graft Chimeras.

J Invest Dermatol 2020 Jan 19;140(1):121-131.e6. Epub 2019 Jul 19.

Molecular and Cellular Immunology Unit, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.

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http://dx.doi.org/10.1016/j.jid.2019.05.031DOI Listing
January 2020

Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica.

Hum Mutat 2020 Jan 12. Epub 2020 Jan 12.

Department Dermatology and Cutaneous Biology, Sidney Kimmel Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/humu.23980DOI Listing
January 2020

Pseudoporphyria induced by ultraviolet radiation.

Australas J Dermatol 2019 Dec 10. Epub 2019 Dec 10.

St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1111/ajd.13212DOI Listing
December 2019

Griscelli syndrome type 3 in Ethiopian sisters resulting from a homozygous missense mutation in MLPH.

Int J Dermatol 2019 Nov 13. Epub 2019 Nov 13.

St St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK.

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http://dx.doi.org/10.1111/ijd.14724DOI Listing
November 2019

Transethnic associations among immune-mediated diseases and single-nucleotide polymorphisms of the aryl hydrocarbon response gene ARNT and the PTPN22 immune regulatory gene.

J Autoimmun 2019 Nov 21:102363. Epub 2019 Nov 21.

Clinical Research Branch, National Institute of Environmental Health Sciences, National Institutes of Health, USA; Research Triangle Park, NC, USA; Bethesda, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jaut.2019.102363DOI Listing
November 2019

Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis.

J Invest Dermatol 2019 Nov 29. Epub 2019 Nov 29.

St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2019.10.015DOI Listing
November 2019

Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out".

Matrix Biol 2019 10 11;83:48-59. Epub 2019 Jul 11.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.matbio.2019.07.002DOI Listing
October 2019

Sneddon syndrome associated with two novel ADA2 gene mutations.

Rheumatology (Oxford) 2019 Oct 25. Epub 2019 Oct 25.

St John's Institute of Dermatology.

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http://dx.doi.org/10.1093/rheumatology/kez446DOI Listing
October 2019

Pterygium and thinning of nails as an unusual manifestation in Clouston syndrome.

J Dermatol 2019 09 25;46(9):e329-e330. Epub 2019 Mar 25.

St John's Institute of Dermatology, King's College London, Guy's Hospital, London, UK.

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http://dx.doi.org/10.1111/1346-8138.14867DOI Listing
September 2019

Frontal fibrosing alopecia should be renamed to lichen planopilaris of Kossard.

J Am Acad Dermatol 2019 08 9;81(2):e53. Epub 2019 Apr 9.

St. John's Institute of Dermatology, Guy's Hospital, London, United Kingdom.

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http://dx.doi.org/10.1016/j.jaad.2019.03.090DOI Listing
August 2019

Blood BTEX levels and neurologic symptoms in Gulf states residents.

Environ Res 2019 08 4;175:100-107. Epub 2019 May 4.

Epidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health (NIH), Department of Health and Human Services (DHHS), Research Triangle Park, NC, USA. Electronic address:

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http://dx.doi.org/10.1016/j.envres.2019.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6571161PMC
August 2019

EMSY expression affects multiple components of the skin barrier with relevance to atopic dermatitis.

J Allergy Clin Immunol 2019 Aug 31;144(2):470-481. Epub 2019 May 31.

Skin Research Group, Division of Molecular and Clinical Medicine, School of Medicine, University of Dundee, Dundee, United Kingdom; Department of Dermatology, Ninewells Hospital, Dundee, United Kingdom. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00916749193074
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http://dx.doi.org/10.1016/j.jaci.2019.05.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6683598PMC
August 2019

Thrombospondin-1 Is a Major Activator of TGF-β Signaling in Recessive Dystrophic Epidermolysis Bullosa Fibroblasts.

J Invest Dermatol 2019 Jul 23;139(7):1497-1505.e5. Epub 2019 Jan 23.

Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2019.01.011DOI Listing
July 2019

The Relationship Between Progesterone, Sleep, and LH and FSH Secretory Dynamics in Early Postmenarchal Girls.

J Clin Endocrinol Metab 2019 Jun;104(6):2184-2194

Clinical Research Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina.

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http://dx.doi.org/10.1210/jc.2018-02400DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6482022PMC
June 2019

Nail lichen planus.

J Am Acad Dermatol 2019 06 23;80(6):e179. Epub 2019 Jan 23.

St. John's Institute of Dermatology, Guy's Hospital, London, England.

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https://linkinghub.elsevier.com/retrieve/pii/S01909622193012
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http://dx.doi.org/10.1016/j.jaad.2019.01.023DOI Listing
June 2019

Cumulative Disaster Exposure and Mental and Physical Health Symptoms Among a Large Sample of Gulf Coast Residents.

J Trauma Stress 2019 04 26;32(2):196-205. Epub 2019 Mar 26.

Epidemiology Branch, National Institute of Environmental Health Sciences, Durham, North Carolina, USA.

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http://dx.doi.org/10.1002/jts.22392DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6476642PMC
April 2019

Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02.

Nat Commun 2019 03 8;10(1):1150. Epub 2019 Mar 8.

St. John's Institute of Dermatology, King's College London, London, Guy's Hospital, London, SE1 9RT, UK.

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http://dx.doi.org/10.1038/s41467-019-09117-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6408457PMC
March 2019

Kindlin-1 Regulates Epidermal Growth Factor Receptor Signaling.

J Invest Dermatol 2019 02 21;139(2):369-379. Epub 2018 Sep 21.

St. Johns Institute of Dermatology, King's College London, Guy's Campus, London, UK; Nikon Imaging Centre, King's College London, Guy's Campus, London, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X183258
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http://dx.doi.org/10.1016/j.jid.2018.08.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6345584PMC
February 2019

Healthy Post-Menarchal Adolescent Girls Demonstrate Multi-Level Reproductive Axis Immaturity.

J Clin Endocrinol Metab 2019 02;104(2):613-623

Clinical Research Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina.

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https://academic.oup.com/jcem/advance-article/doi/10.1210/jc
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http://dx.doi.org/10.1210/jc.2018-00595DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6325170PMC
February 2019

Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1).

JAMA Dermatol 2019 02;155(2):257-259

St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, England.

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http://dx.doi.org/10.1001/jamadermatol.2018.4665DOI Listing
February 2019

Crohn's disease IRGM risk alleles are associated with altered gene expression in human tissues.

Am J Physiol Gastrointest Liver Physiol 2019 01 18;316(1):G95-G105. Epub 2018 Oct 18.

Immunity, Inflammation, and Disease Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health , Research Triangle Park, North Carolina.

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http://dx.doi.org/10.1152/ajpgi.00196.2018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383377PMC
January 2019

Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa.

Pediatr Dev Pathol 2018 Nov-Dec;21(6):580-584. Epub 2018 Mar 4.

1 Department of Dermatology, Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK.

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http://dx.doi.org/10.1177/1093526618761497DOI Listing
December 2018

Association between Deepwater Horizon oil spill response and cleanup work experiences and lung function.

Environ Int 2018 12 11;121(Pt 1):695-702. Epub 2018 Oct 11.

Epidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, United States of America. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01604120183164
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http://dx.doi.org/10.1016/j.envint.2018.09.058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6400458PMC
December 2018

Lichen planus and lichenoid dermatoses: Clinical overview and molecular basis.

J Am Acad Dermatol 2018 Nov;79(5):789-804

St. John's Institute of Dermatology, King's College London, Guy's Hospital, London, United Kingdom.

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https://linkinghub.elsevier.com/retrieve/pii/S01909622183018
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http://dx.doi.org/10.1016/j.jaad.2018.02.010DOI Listing
November 2018

Lichen planus and lichenoid dermatoses: Conventional and emerging therapeutic strategies.

J Am Acad Dermatol 2018 Nov;79(5):807-818

St. John's Institute of Dermatology, King's College London, Guy's Hospital, London, United Kingdom.

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https://linkinghub.elsevier.com/retrieve/pii/S01909622183019
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http://dx.doi.org/10.1016/j.jaad.2018.02.013DOI Listing
November 2018

Clinical subtypes and molecular basis of epidermolysis bullosa in Kuwait.

Int J Dermatol 2018 Sep 16;57(9):1058-1067. Epub 2018 Jul 16.

St. John's Institute of Dermatology, King's College London, Guy's Campus, London, UK.

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http://dx.doi.org/10.1111/ijd.14099DOI Listing
September 2018

Toll-like Receptor 4 Pathway Polymorphisms Interact with Pollution to Influence Asthma Diagnosis and Severity.

Sci Rep 2018 08 23;8(1):12713. Epub 2018 Aug 23.

Clinical Research Branch, Division of Intramural Research, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina, 27709, United States.

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http://dx.doi.org/10.1038/s41598-018-30865-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6107668PMC
August 2018

Exposure to Oil Spill Chemicals and Lung Function in Deepwater Horizon Disaster Response Workers.

J Occup Environ Med 2018 06;60(6):e312-e318

Epidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina (Ms Gam, Drs Kwok, Engel, Sandler); Department of Global Environmental Health Sciences, Tulane University School of Public Health and Tropical Medicine, New Orleans, Louisiana (Ms Gam, Dr Lichtveld); Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, North Carolina (Dr Engel); Social & Scientific Systems Inc., Durham, North Carolina (Mr Curry, Mr McGrath, Mr Jackson II); Stewart Exposure Assessments, LLC, Arlington, Virginia (Dr Stewart); Exposure Assessment Applications, LLC, Arlington, Virginia (Mr Stenzel); Pulmonary Division, University of Utah and Intermountain Medical Center, Salt Lake City, Utah (Dr Jensen); Office of the Director, National Institute of Environmental Health Sciences, National Institutes of Health, Bethesda, Maryland (Dr Miller).

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http://Insights.ovid.com/crossref?an=00043764-201806000-0001
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http://dx.doi.org/10.1097/JOM.0000000000001292DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5995629PMC
June 2018

Montagna Symposium 2017-Precision Dermatology: Next Generation Prevention, Diagnosis, and Treatment.

J Invest Dermatol 2018 06 2;138(6):1243-1248. Epub 2018 May 2.

Department of Dermatology, Oregon Health and Science University, Portland, Oregon, USA; Department of Cell, Developmental and Cancer Biology, Oregon Health and Science University, Portland, Oregon, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2018.02.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5970097PMC
June 2018

EB2017-Progress in Epidermolysis Bullosa Research toward Treatment and Cure.

J Invest Dermatol 2018 05 31;138(5):1010-1016. Epub 2018 Jan 31.

DEBRA International, Vienna, Austria.

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http://dx.doi.org/10.1016/j.jid.2017.12.016DOI Listing
May 2018

Autoinflammatory keratinization diseases: An emerging concept encompassing various inflammatory keratinization disorders of the skin.

J Dermatol Sci 2018 May 1;90(2):105-111. Epub 2018 Feb 1.

Department of Dermatology, Fujita Health University School of Medicine, Toyoake, Japan.

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http://dx.doi.org/10.1016/j.jdermsci.2018.01.012DOI Listing
May 2018

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.

Matrix Biol 2018 03 11;66:22-33. Epub 2017 Nov 11.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0945053X173024
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http://dx.doi.org/10.1016/j.matbio.2017.11.003DOI Listing
March 2018

Black-White Differences in Housing Type and Sleep Duration as Well as Sleep Difficulties in the United States.

Int J Environ Res Public Health 2018 03 21;15(4). Epub 2018 Mar 21.

Epidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Department of Health and Human Services, 111 TW Alexander Drive, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.3390/ijerph15040564DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5923606PMC
March 2018

Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility.

J Dermatol Sci 2018 Feb 2;89(2):198-201. Epub 2017 Dec 2.

St John's Institute of Dermatology, King's College London, Guy's Hospital, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.jdermsci.2017.11.012DOI Listing
February 2018

Caveolin-1 Controls Hyperresponsiveness to Mechanical Stimuli and Fibrogenesis-Associated RUNX2 Activation in Keloid Fibroblasts.

J Invest Dermatol 2018 01 9;138(1):208-218. Epub 2017 Sep 9.

International Research Center of Wound Repair and Regeneration, National Cheng Kung University, Tainan, Taiwan; Department of Physiology, College of Medicine, National Cheng Kung University, Tainan, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2017.05.041DOI Listing
January 2018

Autoinflammatory keratinization diseases.

J Allergy Clin Immunol 2017 12 28;140(6):1545-1547. Epub 2017 Jun 28.

Department of Dermatology, Fujita Health University School of Medicine, Toyoake, Japan.

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http://dx.doi.org/10.1016/j.jaci.2017.05.019DOI Listing
December 2017

Mental health indicators associated with oil spill response and clean-up: cross-sectional analysis of the GuLF STUDY cohort.

Lancet Public Health 2017 12 27;2(12):e560-e567. Epub 2017 Oct 27.

Epidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Department of Health and Human Services, Research Triangle Park, NC, USA.

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http://dx.doi.org/10.1016/S2468-2667(17)30194-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6051348PMC
December 2017

PLACK syndrome resulting from a new homozygous insertion mutation in CAST.

J Dermatol Sci 2017 Nov 9;88(2):256-258. Epub 2017 Jun 9.

Department of Dermatology, Nice University Hospital, Nice, France; Reference Center of Hereditary Epidermolysis Bullosa CREBHN, Nice University Hospital, Nice, France.

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http://dx.doi.org/10.1016/j.jdermsci.2017.06.004DOI Listing
November 2017

Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.

Am J Med Genet A 2017 Nov 8;173(11):3109-3113. Epub 2017 Sep 8.

St John's Institute of Dermatology, Division of Genetics and Molecular Medicine, King's College London, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.38414DOI Listing
November 2017

The Gulf Long-Term Follow-Up Study (GuLF STUDY): Biospecimen collection at enrollment.

J Toxicol Environ Health A 2017 18;80(4):218-229. Epub 2017 Apr 18.

b National Institute of Environmental Health Sciences, National Institutes of Health, Department of Health and Human Services , Research Triangle Park , NC , USA.

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http://dx.doi.org/10.1080/15287394.2017.1283274DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5522735PMC
July 2017

Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex.

J Invest Dermatol 2017 06 19;137(6):1378-1380. Epub 2017 Jan 19.

St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X173003
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http://dx.doi.org/10.1016/j.jid.2017.01.004DOI Listing
June 2017

The Molecular Revolution in Cutaneous Biology: Era of Molecular Diagnostics for Inherited Skin Diseases.

Authors:
John A McGrath

J Invest Dermatol 2017 05;137(5):e83-e86

Genetic Skin Disease Group, King's College London (Guy's Campus), London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2016.02.819DOI Listing
May 2017

Alopecia, palmoplantar keratoderma, skin fragility and follicular hyperkeratoses due to compound heterozygous mutations in desmoplakin.

Australas J Dermatol 2017 Feb 25;58(1):e17-e19. Epub 2015 Aug 25.

Genetic Skin Disease Group, King's College London (Guy's Campus), London, UK.

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http://dx.doi.org/10.1111/ajd.12385DOI Listing
February 2017

Systematised naevus sebaceus resulting from post-zygotic mutation in HRAS.

Australas J Dermatol 2017 Feb 23;58(1):58-60. Epub 2015 Sep 23.

St John's Institute of Dermatology, King's College London, Guy's Hospital, London, UK.

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http://dx.doi.org/10.1111/ajd.12399DOI Listing
February 2017

Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4).

Turk J Pediatr 2015 Jul-Aug;57(4):385-387

Division of Neonatology, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey.

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February 2017

ATR gene mutations in HPV negative oropharyngeal cancer.

Oral Oncol 2017 02 23;65:121-123. Epub 2016 Dec 23.

Department of Molecular Oncology, King's College London, Guy's Campus, SE1 9RT, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.oraloncology.2016.12.009DOI Listing
February 2017

Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa.

Intractable Rare Dis Res 2017 Feb;6(1):6-20

St. John's Institute of Dermatology, King's College London, London, United Kingdom.

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http://dx.doi.org/10.5582/irdr.2017.01005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5359356PMC
February 2017

Questioning the Clinical Utility of Exome Sequencing in Developing Countries.

Pediatr Dermatol 2017 Jan 22;34(1):e32-e34. Epub 2016 Nov 22.

Department of Dermatology, University of California, San Francisco, San Francisco, California.

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http://dx.doi.org/10.1111/pde.13029DOI Listing
January 2017

Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1.

J Dermatol Sci 2016 Nov 11;84(2):210-212. Epub 2016 Aug 11.

St. John's Institute of Dermatology, King's College London, Guy's Hospital, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.jdermsci.2016.08.011DOI Listing
November 2016

Kindlin-1 Regulates Keratinocyte Electrotaxis.

J Invest Dermatol 2016 11 15;136(11):2229-2239. Epub 2016 Jul 15.

Department of Dermatology, No. 1 Hospital of China Medical University, Shenyang, China; School of Dentistry, College of Biomedical and Life Sciences, Cardiff University, Cardiff, UK. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2016.05.129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5756539PMC
November 2016

Frontal fibrosing alopecia: reflections and hypotheses on aetiology and pathogenesis.

Exp Dermatol 2016 11;25(11):847-852

St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK.

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http://dx.doi.org/10.1111/exd.13071DOI Listing
November 2016

Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis.

J Invest Dermatol 2016 10 25;136(10):2095-2098. Epub 2016 Jun 25.

St John's Institute of Dermatology, King's College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2016.06.016DOI Listing
October 2016

Ichthyosis Prematurity Syndrome: From Fetus to Adulthood.

JAMA Dermatol 2016 09;152(9):1055-8

St John's Institute of Dermatology, King's College London, Guy's Campus, London, England.

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http://dx.doi.org/10.1001/jamadermatol.2016.1187DOI Listing
September 2016

Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.

Cell 2016 Sep;167(1):187-202.e17

Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore; Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632, Singapore; Medical Genetics Department, Koç University School of Medicine, 34010 Istanbul, Turkey; Department of Paediatrics, National University of Singapore, Singapore 119228, Singapore. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2016.09.001DOI Listing
September 2016

Lipoid proteinosis.

Authors:
John A Mcgrath

Handb Clin Neurol 2015 ;132:317-22

St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-62702-5.00023-8DOI Listing
August 2016

Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function.

Acta Derm Venereol 2016 May;96(4):557-9

Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.

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http://dx.doi.org/10.2340/00015555-2307DOI Listing
May 2016

Finasteride is of uncertain utility in treating frontal fibrosing alopecia.

J Am Acad Dermatol 2016 Apr;74(4):e73-4

St John's Institute of Dermatology, King's College London, Guy's Hospital, London, United Kingdom.

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http://dx.doi.org/10.1016/j.jaad.2015.09.076DOI Listing
April 2016

Venturing into the New Science of Nucleases.

J Invest Dermatol 2016 Apr;136(4):742-745

Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2016.01.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5320895PMC
April 2016

Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome.

J Dermatol Sci 2016 Feb 27;81(2):134-6. Epub 2015 Oct 27.

Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jdermsci.2015.10.015DOI Listing
February 2016

Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB.

J Invest Dermatol 2016 Jan;136(1):284-92

UCL Institute of Child Health, Molecular and Cellular Immunology Section & Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1038/JID.2015.364DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4759620PMC
January 2016

Improving the understanding of the link between cognition and functional capacity in schizophrenia and bipolar disorder.

Schizophr Res 2015 Dec 1;169(1-3):121-127. Epub 2015 Oct 1.

Department of Psychiatry, University of California, San Diego, United States; Sam and Rose Stein Institute for Research on Aging, University of California, San Diego, CA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.schres.2015.09.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4681671PMC
December 2015

The cytolinker plectin regulates nuclear mechanotransduction in keratinocytes.

J Cell Sci 2015 Dec 2;128(24):4475-86. Epub 2015 Nov 2.

Centre for Cell Biology and Cutaneous Research, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, London, E1 2AT UK

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http://jcs.biologists.org/content/joces/128/24/4475.full.pdf
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http://jcs.biologists.org/cgi/doi/10.1242/jcs.173435
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http://dx.doi.org/10.1242/jcs.173435DOI Listing
December 2015

Recently Identified Forms of Epidermolysis Bullosa.

Authors:
John A McGrath

Ann Dermatol 2015 Dec 7;27(6):658-66. Epub 2015 Dec 7.

St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK.

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http://dx.doi.org/10.5021/ad.2015.27.6.658DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4695416PMC
December 2015

Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis.

J Dermatol Sci 2015 Sep 6;79(3):317-9. Epub 2015 Jul 6.

Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jdermsci.2015.07.001DOI Listing
September 2015

EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features.

Mol Genet Genomic Med 2015 Sep 4;3(5):452-8. Epub 2015 Jun 4.

Department of Pediatrics, The University of Pennsylvania Philadelphia, 19104, Pennsylvania ; Division of Biochemical Genetics, The Children's Hospital of Philadelphia Philadelphia, 19104, Pennsylvania.

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http://dx.doi.org/10.1002/mgg3.156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4585453PMC
September 2015

Familial frontal fibrosing alopecia.

J Am Acad Dermatol 2015 Jul;73(1):e37

St John's Institute of Dermatology, King's College London, Guy's Hospital, London, United Kingdom.

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https://linkinghub.elsevier.com/retrieve/pii/S01909622150150
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http://dx.doi.org/10.1016/j.jaad.2015.01.057DOI Listing
July 2015

Novel TGM5 mutations in acral peeling skin syndrome.

Exp Dermatol 2015 Apr;24(4):285-9

Department of Dermatology, Maastricht University Medical Center+, Maastricht, The Netherlands; GROW Research School for Oncology and Developmental Biology, Maastricht University Medical Center+, Maastricht, The Netherlands.

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http://dx.doi.org/10.1111/exd.12650DOI Listing
April 2015

The three-body problem of therapy with induced pluripotent stem cells.

Genome Med 2015 20;7(1):15. Epub 2015 Feb 20.

St John's Institute of Dermatology, King's College London, Floor 9 Tower Wing, Guy's Hospital, Great Maze Pond, London, SE1 9RT UK.

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http://dx.doi.org/10.1186/s13073-015-0141-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4335559PMC
February 2015