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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1948 1
1975 3
1977 2
1978 1
1979 1
1980 1
1981 2
1983 2
1984 3
1986 1
1987 2
1988 1
1989 4
1990 5
1991 3
1992 1
1993 3
1994 5
1995 6
1996 10
1997 6
1998 13
1999 10
2000 5
2001 8
2002 8
2003 10
2004 7
2005 13
2006 16
2007 22
2008 21
2009 20
2010 31
2011 35
2012 29
2013 25
2014 40
2015 28
2016 32
2017 38
2018 42
2019 35
2020 42
2021 46
2022 46
2023 27
2024 7

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Search Results

630 results

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Page 1
Transcriptional and Immune Landscape of Cardiac Sarcoidosis.
Liu J, Ma P, Lai L, Villanueva A, Koenig A, Bean GR, Bowles DE, Glass C, Watson M, Lavine KJ, Lin CY. Liu J, et al. Circ Res. 2022 Sep 30;131(8):654-669. doi: 10.1161/CIRCRESAHA.121.320449. Epub 2022 Sep 16. Circ Res. 2022. PMID: 36111531 Free PMC article.
We identified GPNMB (transmembrane glycoprotein NMB) as a novel marker of multinucleated giant cells and predicted that the MITF (microphthalmia-associated transcription factor) family of transcription factors regulated this cell type. ...
We identified GPNMB (transmembrane glycoprotein NMB) as a novel marker of multinucleated giant cells and predicted that the MITF ( …
Anophthalmia and microphthalmia.
Verma AS, Fitzpatrick DR. Verma AS, et al. Orphanet J Rare Dis. 2007 Nov 26;2:47. doi: 10.1186/1750-1172-2-47. Orphanet J Rare Dis. 2007. PMID: 18039390 Free PMC article. Review.
Both anophthalmia and microphthalmia may occur in isolation or as part of a syndrome, as in one-third of cases. ...SOX2 and PAX6 mutations may act through causing lens induction failure. FOXE3 mutations, associated with lens agenesis, have been observed in a few mic …
Both anophthalmia and microphthalmia may occur in isolation or as part of a syndrome, as in one-third of cases. ...SOX2 and PAX6 muta …
microRNAs in the Regulation of Melanogenesis.
Hushcha Y, Blo I, Oton-Gonzalez L, Mauro GD, Martini F, Tognon M, Mattei M. Hushcha Y, et al. Int J Mol Sci. 2021 Jun 5;22(11):6104. doi: 10.3390/ijms22116104. Int J Mol Sci. 2021. PMID: 34198907 Free PMC article. Review.
Melanogenesis is the process leading to the synthesis of melanin, the main substance that influences skin color and plays a pivotal role against UV damage. Altered melanogenesis is observed in several pigmentation disorders. Melanogenesis occurs in specialized cells called …
Melanogenesis is the process leading to the synthesis of melanin, the main substance that influences skin color and plays a pivotal role aga …
Waardenburg syndrome.
Read AP, Newton VE. Read AP, et al. J Med Genet. 1997 Aug;34(8):656-65. doi: 10.1136/jmg.34.8.656. J Med Genet. 1997. PMID: 9279758 Free PMC article. Review.
Type II WS is a heterogeneous group, about 15% of whom are heterozygous for mutations in the MITF (microphthalmia associated transcription factor) gene. All these forms show marked variability even within families, and at present it is not possible to predict the se …
Type II WS is a heterogeneous group, about 15% of whom are heterozygous for mutations in the MITF (microphthalmia associated transcri …
Does DNA Methylation Matter in FSHD?
Salsi V, Magdinier F, Tupler R. Salsi V, et al. Genes (Basel). 2020 Feb 28;11(3):258. doi: 10.3390/genes11030258. Genes (Basel). 2020. PMID: 32121044 Free PMC article. Review.
Besides, CpG methylation at D4Z4 DNA is reduced in patients presenting diseases unrelated to muscle progressive wasting, like Bosma Arhinia and Microphthalmia syndrome, a developmental disorder, as well as ICF syndrome. Consistent with these observations, the analys …
Besides, CpG methylation at D4Z4 DNA is reduced in patients presenting diseases unrelated to muscle progressive wasting, like Bosma Arhinia …
Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life.
Fahnehjelm C, Dafgård Kopp E, Wincent J, Güven E, Nilsson M, Olsson M, Teär Fahnehjelm K. Fahnehjelm C, et al. Ophthalmic Genet. 2022 Apr;43(2):172-183. doi: 10.1080/13816810.2021.1989600. Epub 2022 Feb 2. Ophthalmic Genet. 2022. PMID: 35105264 Review.
PURPOSE: To report ocular outcome, somatic co-morbidities, genetics, and quality of life in children born with anophthalmia (A) or microphthalmia (M). METHODS: Thirty-five children (19 boys) with A/M underwent ophthalmological examinations and a review of medical records. …
PURPOSE: To report ocular outcome, somatic co-morbidities, genetics, and quality of life in children born with anophthalmia (A) or microp …
Skin Pigmentation Genetics for the Clinic.
Ainger SA, Jagirdar K, Lee KJ, Soyer HP, Sturm RA. Ainger SA, et al. Dermatology. 2017;233(1):1-15. doi: 10.1159/000468538. Epub 2017 May 3. Dermatology. 2017. PMID: 28463841 Review.
Although pigmentation is a polygenic trait, due to interactive and quantitative gene effects, strong phenotypic associations are readily apparent for these major genes. However, predictive value and utility are increased when considering gene polymorphism interactions. ...
Although pigmentation is a polygenic trait, due to interactive and quantitative gene effects, strong phenotypic associations are readily app …
Melanogenesis Connection with Innate Immunity and Toll-Like Receptors.
Koike S, Yamasaki K. Koike S, et al. Int J Mol Sci. 2020 Dec 21;21(24):9769. doi: 10.3390/ijms21249769. Int J Mol Sci. 2020. PMID: 33371432 Free PMC article. Review.
Melanocytes and melanin play a wide range of roles such as adsorption of metals, thermoregulation, and protection from foreign enemies by camouflage. Pigmentary disorders are observed in diseases associated with immunodeficiency such as Griscelli syndrome, indicating molec …
Melanocytes and melanin play a wide range of roles such as adsorption of metals, thermoregulation, and protection from foreign enemies by ca …
Genetic progression of malignant melanoma.
Tímár J, Vizkeleti L, Doma V, Barbai T, Rásó E. Tímár J, et al. Cancer Metastasis Rev. 2016 Mar;35(1):93-107. doi: 10.1007/s10555-016-9613-5. Cancer Metastasis Rev. 2016. PMID: 26970965 Review.
Unfortunately, there are hardly any data on the possible organ-specific metastatic drivers in melanoma. These observations suggest that clinical management of melanoma patients must rely on the genetic analysis of the metastatic lesions to be able to monitor progression-as …
Unfortunately, there are hardly any data on the possible organ-specific metastatic drivers in melanoma. These observations suggest th …
SOX2 anophthalmia syndrome.
Ragge NK, Lorenz B, Schneider A, Bushby K, de Sanctis L, de Sanctis U, Salt A, Collin JR, Vivian AJ, Free SL, Thompson P, Williamson KA, Sisodiya SM, van Heyningen V, Fitzpatrick DR. Ragge NK, et al. Am J Med Genet A. 2005 May 15;135(1):1-7; discussion 8. doi: 10.1002/ajmg.a.30642. Am J Med Genet A. 2005. PMID: 15812812
Of the nine patients, six had bilateral anophthalmia and two had anophthalmia with contralateral microphthalmia with sclerocornea. The remaining case had anophthalmia with contralateral microphthalmia, posterior cortical cataract and a dysplastic optic disc, and was …
Of the nine patients, six had bilateral anophthalmia and two had anophthalmia with contralateral microphthalmia with sclerocornea. Th …
630 results