December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
October 2022 in “Rheumatology (Bulgaria)” Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.
August 2024 in “Current Issues in Molecular Biology” Key genes and RNAs related to hair growth in sheep were identified, aiding future breeding improvements.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
1 citations
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April 2023 in “International Journal of Molecular Sciences” New CRISPR/Cas9 variants and nanotechnology-based delivery methods are improving cancer treatment, but choosing the best variant and overcoming certain limitations remain challenges.
April 2016 in “Journal of Investigative Dermatology” SOX4 is crucial for the development of melanoma.
Dupilumab improved hair and skin in a woman with Netherton syndrome.
30 citations
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February 2021 in “Journal of Medical Virology” TMPRSS2 affects COVID-19 severity and treatment options.
8 citations
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May 2005 in “Fertility and Sterility” A specific gene variation is linked to a higher risk of polycystic ovary syndrome in Caucasian women.
Dupilumab improved hair and skin in a woman with Netherton syndrome.
1 citations
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July 2024 in “Journal of Investigative Dermatology” Immune cells boost stem cell activity in hairy moles, causing more hair growth.
32 citations
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August 2016 in “Science Signaling” Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
3 citations
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May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
1 citations
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September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
April 2026 in “Reviews in Medical Virology” Trichodysplasia spinulosa is a rare skin condition linked to weakened immune systems, mostly in organ transplant patients.
2 citations
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October 2016 in “OPAL (Open@LaTrobe) (La Trobe University)” The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
June 1996 in “Journal of Dermatological Science”
April 2024 in “Human genomics” Identified genes linked to male-pattern baldness may help develop new treatments.
11 citations
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February 1982 in “Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis” A new method can detect mutations in mice by observing changes in hair follicle cells.
5 citations
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July 2014 in “Molecular Biology Reports”
7 citations
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December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
48 citations
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September 2020 in “Frontiers in Immunology” Loss of OGG1 increases skin inflammation and auto-antibodies in lupus.
2 citations
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May 2019 in “Small ruminant research” Mutations in specific llama genes may affect fiber quality for textiles.
January 2007 in “Edward Elgar eBooks” TSPO might help treat anxiety and depression.
21 citations
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January 2022 in “Biomaterials Science” RNA delivery is best for in-body use, while RNP delivery is good for outside-body use. Both methods are expected to greatly impact future treatments.
2 citations
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June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
14 citations
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December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
14 citations
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February 2014 in “Nutrition in Clinical Practice” Use oral or enteral nutrition when possible and reserve IV trace elements for those who truly need them.
2 citations
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March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.