Research Topics
Genomes and Genes | G RichardSummaryAffiliation: Thomas Jefferson University Country: USA Publications
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Publications
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndromeGabriele Richard
Department of Dermatology and Cutaneous Biology and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA
Am J Hum Genet 70:1341-8. 2002....
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilisG Richard
Genetic Studies Section, Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA
Nat Genet 20:366-9. 1998..Our results implicate Cx31 in the pathogenesis of EKV, and provide evidence that intercellular communication mediated by Cx31 is crucial for epidermal differentiation and response to external factors...- Connexins: a connection with the skinG Richard
Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA
Exp Dermatol 9:77-96. 2000.... - The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3G Richard
Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA
Hum Genet 106:321-9. 2000..However, the phenotypic spectrum of GJB3 mutations seems not to include progressive symmetric erythrokeratodermia, another dominant genodermatosis with overlapping features, since no mutations were found in six unrelated families tested... - Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlationsGabriele Richard
Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
J Invest Dermatol 120:601-9. 2003..In conclusion, our results demonstrate genetic heterogeneity in erythrokeratodermia variabilis, and emphasize that intercellular communication mediated by both Cx31 and Cx30.3 is crucial for epidermal differentiation... - Connexin gene pathologyG Richard
Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA
Clin Exp Dermatol 28:397-409. 2003 - trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiationF Rouan
Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA
J Cell Sci 114:2105-13. 2001..This assumption is further corroborated by our finding that Cx26 and Cx43 focally colocalize at gap junctional plaques in affected skin tissue of two carriers of DeltaE42... - Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratodermaG Richard
Genetics Studies Section, Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892 2757, USA
Hum Genet 103:393-9. 1998..These data provide compelling evidence for the serious functional consequences of Cx26 mutations in dominant and recessive deafness... - Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlationF Ringpfeil
Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Institute of Molecular Medicine, Philadelphia, PA, USA
Exp Dermatol 10:19-27. 2001.... - Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2Gabriele Richard
Department of Dermatology and Cutaneous Biology, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
J Invest Dermatol 123:856-63. 2004..Our results emphasize that pleiotropic GJB2 mutations are responsible for at least 5 overlapping dermatological disorders associated with syndromic hearing loss and cover a wide range of severity and organ involvement... - Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitroF Rouan
Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, PA 19107, USA
Exp Dermatol 12:191-7. 2003..In contrast, intercellular coupling between cells expressing R32W-Cx31 was comparable to that of wtCx31, suggesting that R32W is a functionally inconsequential polymorphism of Cx31... - Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndromeAndrew J Griffith
Section on Gene Structure and Function, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USA
Laryngoscope 116:1404-8. 2006..CONCLUSIONS: GJB2 mutations can cause deafness in KID syndrome, and possibly in other GJB2 mutant phenotypes, by disrupting cochlear differentiation... - The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosisE Sprecher
Department of Dermatology and Cutaneous Biology and Jefferson Institute of Molecular Medicine, Jefferson Medical College, Philadelphia, Pennsylvania 19107, USA
J Invest Dermatol 117:179-87. 2001..For the first time, we used molecular data to perform prenatal testing, thus demonstrating the feasibility of molecular diagnosis in the Comèl-Netherton syndrome... - Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrixE Sprecher
Department of Dermatology and Cutaneous Biology and the Jefferson Institute of Molecular Medicine, Jefferson Medical College, Philadelphia, Pennsylvania 19107, USA
J Invest Dermatol 116:511-9. 2001..These data provide the first in vivo evidence for the crucial role of a keratin tail domain in supramolecular keratin intermediate filament organization and barrier formation... - Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevusG Richard
Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892 2757, USA
Nat Genet 11:453-5. 1995..This mutation enlarges the spectrum of keratins with disease-causing defects to include mucosally expressed keratin 13, and extends the known keratin diseases to disorders of non-cornifying stratified squamous epithelia... - In vivo and in vitro expression of connexins in the human corneal epitheliumDaniel L Shurman
Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA
Invest Ophthalmol Vis Sci 46:1957-65. 2005..It also evaluates the pathologic effects of a pathogenic missense mutation in Cx26, which causes keratitis-ichthyosis-deafness syndrome (KIDS), a rare genetic disorder with corneal involvement... - Progress in epidermolysis bullosa: genetic classification and clinical implicationsJouni Uitto
Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, PA 19107, USA
Am J Med Genet C Semin Med Genet 131:61-74. 2004.... - Molecular genetics of the ichthyosesGabriele Richard
Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA
Am J Med Genet C Semin Med Genet 131:32-44. 2004..It illustrates the power of molecular diagnostics for refining disease classification, providing prenatal diagnosis, improving genetic counseling, and clinical management... - Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genesEli Sprecher
Department of Dermatology and Cutaneous Biology and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
J Invest Dermatol 119:692-8. 2002..In summary, our results substantially refine the Naegeli-Franceschetti-Jadassohn syndrome region and will aid in identifying a gene that is critical for ontogenesis of multiple ectodermal tissues... - Epidermolysis Bullosa Simplex with mottled pigmentation: mutation analysis in the first reported Hispanic pedigree with the largest single generation of affected individuals to dateDaniel Shurman
Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA, and Department of Clinical Genetics, Helsinki University Central Hospital, Finland
Eur J Dermatol 16:132-5. 2006..In both families, the heterozygous transition mutation 74C-->T of the keratin 5 gene, which results in amino acid substitution P25L, completely co-segregated with the EBS-MP phenotype... - Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous familiesAoi Nakano
Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA
J Am Acad Dermatol 46:510-6. 2002.... - Connexin disorders of the skinGabriele Richard
Department of Dermatology and Cutaneous Biology and the Jefferson Institute of Molecular Medicine, Jefferson Medical College, Philadelphia, PA 19107, USA
Clin Dermatol 23:23-32. 2005..This review aims to delineate the cutaneous connexin disorders and to highlight intriguing genotype-phenotype correlations and emanating clinical implications... - Diseases of epidermal keratins and their linker proteinsJouni Uitto
Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA
Exp Cell Res 313:1995-2009. 2007..Finally, precise knowledge of the mutations is a prerequisite for development of gene therapy approaches to counteract, and potentially cure, these often devastating and currently intractable diseases... - Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasiaRichard Kellermayer
Department of Medical Genetics and Child Development, , , , Hungary
Eur J Dermatol 15:75-9. 2005..Our findings suggest that GJA1 mutations can produce variable clinical phenotypes on the background of sequence variants in other connexins... - Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cellsSimone Diestel
Department of Biochemistry, Institute of Animal Anatomy and Physiology, University of Bonn, 53115 Bonn, Germany
Biochem Biophys Res Commun 296:721-8. 2002.... - Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14Jennie Lugassy
Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Health Care Campus, Technion Israel Institute of Technology, Haifa, Israel
Am J Hum Genet 79:724-30. 2006.... - Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafnessCharles K Abrams
Department of Neuroscience, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA
Proc Natl Acad Sci U S A 103:5213-8. 2006..These findings provide an important first step in evaluating the pathogenesis of inherited human diseases associated with mutations in the gene for Cx31... - Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5Eli Sprecher
Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
J Invest Dermatol 120:623-6. 2003..Our results, together with previous observations, establish the existence of a subgroup of keratin disorders due to frameshift mutations altering the keratin tail domains that are characterized by phenotypic heterogeneity... - A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafnessChester W Brown
J Invest Dermatol 121:1221-3. 2003 - Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafnessDwan A Gerido
Dept of Physiology and Biophysics, State University of New York, T5 147, Basic Science Tower, Stony Brook, NY 11794 8661, USA
Am J Physiol Cell Physiol 293:C337-45. 2007..These data suggest that mutant hemichannels may act on cellular homeostasis in a manner that can be detrimental to the tissues in which they are expressed... - Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichiaAmy Y Jan
Division of Dermatology, Department of Medicine, University of Washington, Seattle, WA, USA
J Invest Dermatol 122:1108-13. 2004..3, and Cx31, may be required... - Specific amino-acid residues in the N-terminus and TM3 implicated in channel function and oligomerization compatibility of connexin43Valerie Lagree
Department of Cell Biology, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
J Cell Sci 116:3189-201. 2003.... - Gap junctions: basic structure and functionGulistan Mese
1Program in Genetics, Stony Brook University, Stony Brook, New York, USA
J Invest Dermatol 127:2516-24. 2007..Here, we discuss the basic structure of gap junction channels and the function of connexin genes that have been associated with human disorders to explore the physiology of intercellular communication in skin... - A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosisSusan C Kelly
Department of Dermatology, Lehigh Valley Hospital, Allentown, Pennsylvania, USA
Eur J Dermatol 16:241-5. 2006..In the light of the cutaneous findings in our patient and based on recent ectodermal dysplasia classification systems, we propose to include ODDD in the group of ectodermal dysplasias... - KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndromeJennie Lugassy
Laboratory of Molecular Dermatology and Department of Dermatology, Rambam Health Care Campus, Haifa, Israel
J Invest Dermatol 128:1517-24. 2008.... - Malignant proliferating pilar tumors arising in KID syndrome: a report of two patientsGurston G Nyquist
Department of Otolaryngology, Head and Neck Surgery, Kaiser Permanente, Oakland, CA, USA
Am J Med Genet A 143:734-41. 2007..Based on our findings, we believe that cancer surveillance in patients with KID syndrome should include screening for pilar tumors and their early removal to avoid development of malignant proliferating pilar tumors with poor prognosis... - A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosisOrit Topaz
Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Health Care Campus, Haifa, Israel
Am J Hum Genet 79:759-64. 2006..Our data suggest that SAMD9 is involved in the regulation of extraosseous calcification, a process of considerable importance in a wide range of diseases as common as atherosclerosis and autoimmune disorders... - Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: a "new" syndrome?Mette Warburg
Department of Pediatric Ophthalmology and Handicap, Copenhagen University Hospital, Glostrup, Denmark
Am J Med Genet A 140:2709-13. 2006.... - Consequences of depleted SERCA2-gated calcium stores in the skinEliane J Muller
Vetsuisse Faculty, Institute of Animal Pathology, University of Bern, Bern, Switzerland
J Invest Dermatol 126:721-31. 2006.... - Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophyMargarita Indelman
Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
J Invest Dermatol 121:1217-20. 2003.... - Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosisOrit Topaz
Department of Dermatology, Rambam Medical Center, Haifa, Israel
Nat Genet 36:579-81. 2004..Sequence analysis of GALNT3 identified biallelic deleterious mutations in all individuals with FTC, suggesting that defective post-translational modification underlies the disease... - In vivo studies of mutant keratin 1 in ichthyosis hystrix Curth-MacklinAkemi Ishida-Yamamoto
J Invest Dermatol 120:498-500. 2003 - A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophyMargarita Indelman
Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
J Invest Dermatol 119:1210-3. 2002..Our data establish recessive mutations in CDH3 as the molecular cause of hypotrichosis with juvenile macular dystrophy and expand our understanding of the pathophysiology of this intriguing disorder... - Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disordersYaacov Frishberg
Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem, Israel
J Mol Med 83:33-8. 2005..The heterogeneous phenotypic expression of the identified splice site mutation implies the existence of inherited or epigenetic modifying factors of importance in the regulation of ppGalNAc-T3 activity... - LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosumAkemi Ishida-Yamamoto
Department of Dermatology, Asahikawa Medical College, Midorigaoka Higashi 2 1 1 1, Asahikawa 078 8510, Japan
J Invest Dermatol 124:360-6. 2005..Our data provide new insights into the biological functions of LG and the pathogenesis of NS... - Absence of intraepidermal glycosyltransferase ppGalNac-T3 expression in familial tumoral calcinosisOrit Topaz
Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
Am J Dermatopathol 27:211-5. 2005..Our data provide for the first time evidence for ppGalNAc-T3 deficiency in the skin of HFTC patients and suggest that immunostaining of skin biopsy samples for ppGal-Nac-T3 might be a useful tool for the diagnosis of HFTC... - Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5Adam S Geyer
Department of Dermatology, Columbia University Medical Center, Columbia University, New York, NY, USA
Dermatology 210:308-14. 2005..The disorder is caused by deleterious mutations in the SPINK5 gene, encoding the serine protease inhibitor LEKTI... - A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcificationIlana Chefetz
Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, 9602, Haifa, Israel
Hum Genet 118:261-6. 2005..The mutation (M96T) was found to affect a highly conserved methionine residue at position 96 of the protein. These observations illustrate the extent of genetic and phenotypic heterogeneity in HFTC... - Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive proteinIlana Chefetz
Laboratory of Molecular Dermatology and Department of Dermatology, Rambam Health Care Campus, Haifa, Israel
J Invest Dermatol 128:1423-9. 2008..These data link NFTC and SAMD9 to the TNF-alpha signaling pathway, suggesting a role for this system in the regulation of extra-osseous calcification...
Research Grants
- CLINICAL AND GENETIC STUDIES OF NETHERTON SYNDROMEGabriele Richard; Fiscal Year: 2002....
- CONNEXINS AND THEIR ROLE IN EPIDERMAL DIFFERENTIATIONGabriele Richard; Fiscal Year: 2004..We expect that these approaches provide critical information on the patho-mechanism of connexin defects in skin. ..