All posts in category Genetic Research

Androgenetic alopecia: identification of four genetic risk loci and evidence for the contribution of WNT-signaling to its etiology.

DermatologistsBlog Author Interview: Stefanie Heilmann, Dipl.-Mol.Biomed. Institute of Human GeneticsDepartment of Genomics Life & Brain CenterUniversity of Bonn, Bonn Germany DermatologistsBlog: What are the main findings of the study? Ms. Heilmann: We identified four novel genetic risk loci for male pattern baldness (androgenetic alopecia, AGA) on chromosomes 2q35, 3q25, 5q33.3 and 12p12.1. The next question [...]

by on March 7, 2013  •  Permalink
Posted in Alopecia -, Androgenic, Author Interviews, Genetic Research
Posted by admin on March 7, 2013

http://dermatologistsblog.com/alopecia/androgenetic-alopecia-identification-of-four-genetic-risk-loci-and-evidence-for-the-contribution-of-wnt-signaling-to-its-etiology/

Melanoma: Loss of 5-Hydroxymethylcytosine Is an Epigenetic Hallmark

Loss of 5-Hydroxymethylcytosine Is an Epigenetic Hallmark of Melanoma DermatologistsBlog.com  Author Interview: Christine Guo Lian MD Division of Dermatopathology, Department of Pathology, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA 02115, USA   DermatologistsBlog.com : What are the main findings of the study? Evidence demonstrates that epigenetic events, combined with genetic changes in the DNA [...]

by on September 18, 2012  •  Permalink
Posted in Author Interviews, Genetic Research, Melanoma, Skin Cancer
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Posted by admin on September 18, 2012

http://dermatologistsblog.com/skin-cancer/melanoma-loss-of-5-hydroxymethylcytosine-is-an-epigenetic-hallmark/

GSTP1 rs1695 polymorphism in Melanoma

Role of glutathione S-transferases in melanoma susceptibility: association with GSTP1 rs1695 polymorphism Author Interview: Gloria Ribas Investigadora “FIS Miquel Servet” Fundacion Investigacion Clinico de Valencia Instituto de Investigacion Sanitaria INCLIVA Av. Blasco Ibanez, 17 46010 Valencia What are the main findings of the study? Glutathione S-transferases (GSTs) GSTM1, GSTT1 and GSTP1 are multifunctional enzymes involved in the detoxification of a [...]

by on May 7, 2012  •  Permalink
Posted in Author Interviews, Genetic Research, Melanoma
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Posted by admin on May 7, 2012

http://dermatologistsblog.com/skin-cancer/melanoma/gstp1-rs1695-polymorphism-in-melanoma/

Eye color may indicate risk for serious skin conditions

DENVER (May 6, 2012) – Eye color may be an indicator of whether a person is high-risk for certain serious skin conditions. A study, led by the University of Colorado School of Medicine, shows people with blue eyes are less likely to have vitiligo. It then follows, according to scientists, that people with brown eyes [...]

by on May 6, 2012  •  Permalink
Posted in Genetic Research, Melanoma, Vitiligo
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Posted by admin on May 6, 2012

http://dermatologistsblog.com/skin-cancer/melanoma/eye-color-may-indicate-risk-for-serious-skin-conditions/

Psoriasis: PSORS2 is Due to Mutations in CARD14

Psoriasis affecting the skin and nails

  Author Interview: Anne M. Bowcock, Ph.D. Professor, Genetics, Pediatrics, Internal Medicine Co-Director Division of Human Genetics     What are the main findings of the study? We identified a gene (CARD14) that is mutated in some rare familial forms of psoriasis, and also identified a pediatric patient with pustular psoriasis with a de novo (sporadic) germline mutation in this [...]

by on April 22, 2012  •  Permalink
Posted in Author Interviews, Genetic Research, Psoriasis
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Posted by admin on April 22, 2012

http://dermatologistsblog.com/psoriasis/psoriasis-psors2-is-due-to-mutations-in-card14/

Confused by genetic tests? NIH’s new online tool may help

An online tool launched today by the National Institutes of Health will make it easier to navigate the rapidly changing landscape of genetic tests. The free resource, called the Genetic Testing Registry (GTR), is available athttp://www.ncbi.nlm.nih.gov/gtr/. “I’m delighted that NIH has created this powerful, new tool. It is a tremendous resource for all who are [...]

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by on February 29, 2012  •  Permalink
Posted in Genetic Research
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Posted by admin on February 29, 2012

http://dermatologistsblog.com/genetic-research/confused-by-genetic-tests-nihs-new-online-tool-may-help/

Inherited variants in the MC1R gene and survival from cutaneous melanoma: Author Interview

Inherited variants in the MC1R gene and survival from cutaneous melanoma: a BioGenoMEL study. Author Interview:  Dr. Julia A Newton Bishop Professor of Dermatology, Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, University of Leeds, Cancer Genetics Building, St James’s University Hospital  Leeds, LS9 7TF What are the main findings of the study? This study [...]

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by on February 14, 2012  •  Permalink
Posted in Author Interviews, Genetic Research, Melanoma
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Posted by admin on February 14, 2012

http://dermatologistsblog.com/skin-cancer/melanoma/inherited-variants-in-the-mc1r-gene-and-survival-from-cutaneous-melanoma-author-interview/

Filaggrin loss-of-function mutation R501X and 2282del4 carrier status is associated with fissured skin on the hands: results from a cross-sectional population study : Dr. Thyssen

Filaggrin loss-of-function mutation R501X and 2282del4 carrier status is associated with fissured skin on the hands: results from a cross-sectional population study Author Interview: Dr. Jacob Pontoppidan Thyssen MD PhD What are the main findings of the study? We show that common loss-of-function mutations in the filaggrin gene affecting 8-10% of Northern Europeans are associated with fissured [...]

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by on January 25, 2012  •  Permalink
Posted in Author Interviews, Dry Skin, Eczema, Genetic Research
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Posted by admin on January 25, 2012

http://dermatologistsblog.com/dry_skin/filaggrin-loss-of-function-mutation-r501x-and-2282del4-carrier-status-is-associated-with-fissured-skin-on-the-hands-results-from-a-cross-sectional-population-study-dr-thyssen/

Description of a Cold Sore Susceptibility Gene: Dr. Kriesel

Author Interview: John D. Kriesel, M.D. Associate Professor Infectious Diseases and Internal Medicine University of Utah School of Medicine 30 North 1900 East, Room 4B-322 Salt Lake City, UT 84132 What are the main findings of the study? We found that the previously obscure gene candidate (open reading frame) C21orf91 is linked to frequent cold sores [...]

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by on January 12, 2012  •  Permalink
Posted in Author Interviews, Genetic Research, Herpes Simplex
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Posted by admin on January 12, 2012

http://dermatologistsblog.com/infections/herpes-simplex/description-of-a-cold-sore-susceptibility-gene-dr-kriesel/

Germline BAP1 Mutation Predisposes to Uveal Melanoma : Author Interview Dr. Abdel-Rahman

Author Interview: Mohamed H. Abdel-Rahman, MD, PhD Assistant Professor Department of Ophthalmology Division of Human Genetics The Ohio State University What are the main findings of the study? The two main findings of our study are that germline mutation in BAP1 genes predisposes patients (and their family members) to a variety of cancers most significantly [...]

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by on December 21, 2011  •  Permalink
Posted in Author Interviews, Genetic Research, Melanoma
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Posted by admin on December 21, 2011

http://dermatologistsblog.com/skin-cancer/melanoma/germline-bap1-mutation-predisposes-to-uveal-melanoma-author-interview-dr-abdel-rahman/

Researchers discover hereditary predisposition of melanoma of the eye

COLUMBUS, Ohio – Ohio State University researchers have discovered a hereditary cancer syndrome that predisposes certain people to a melanoma of the eye, along with lung cancer, brain cancer and possibly other types of cancer. The hereditary cancer syndrome is caused by an inherited mutation in a gene called BAP1, researchers say. The findings suggest [...]

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by on December 21, 2011  •  Permalink
Posted in Genetic Research, Melanoma
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Posted by admin on December 21, 2011

http://dermatologistsblog.com/skin-cancer/melanoma/researchers-discover-hereditary-predisposition-of-melanoma-of-the-eye/

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