1 citations
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December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Children with frequent severe infections and low antibodies should be checked for immune deficiencies.
1 citations
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September 2017 in “Zhonghua neifenmi daixie zazhi” Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
29 citations
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July 2014 in “PloS one” Meis1 is crucial for skin health and tumor development.
April 2023 in “Journal of Investigative Dermatology” TGFβ-2 may cause hair loss in androgenetic alopecia.
19 citations
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May 2016 in “Matrix Biology” Deleting a specific protein in skin cells disrupts normal hair growth and development.
2 citations
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July 1994 in “Journal of Dermatological Science” Grafted human scalp samples on mice can produce human hair, useful for studying hair genetics.
1 citations
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January 2018 in “Indian dermatology online journal” The girl has both monilethrix and Type 1 diabetes, but no link between the two conditions is known.
2 citations
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May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
125 citations
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August 2003 in “Development” Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.
3 citations
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May 2013 in “PubMed” Research on Hutchinson-Gilford progeria syndrome could help understand normal aging and heart disease.
April 2014 in “The FASEB Journal” Iron deficiency in mothers causes hair loss in their baby mice.
11 citations
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November 2015 in “Carcinogenesis” Deleting TNFα gene reduces skin cancer risk in certain mice.
3 citations
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April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
41 citations
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December 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting MED1 in skin cells causes hair loss and skin changes.
19 citations
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November 1993 in “Mammalian Genome” A gene mutation in mice causes permanent hair loss and skin issues.
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Removing Sprouty genes in mice causes various hormone-related issues but does not increase cancer risk by one year of age.
25 citations
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May 2004 in “Prenatal Diagnosis” Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
5 citations
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June 2017 in “in Vivo” Vitamin C deficiency changes gene expression, affecting skin and hair health.
28 citations
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November 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” GMG-43AC may help reduce unwanted hair growth and treat certain hair loss conditions.
24 citations
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June 1999 in “The Pediatric Infectious Disease Journal” A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.
3 citations
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January 2022 in “Burns & Trauma” CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.
1 citations
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April 2018 in “Journal of Investigative Dermatology” The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
46 citations
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September 2007 in “Journal of Investigative Dermatology”
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
86 citations
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January 1990 in “The Journal of Pediatrics” Children with partial biotinidase deficiency are healthy at birth but may develop symptoms that improve with biotin therapy.
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February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
15 citations
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April 2007 in “Journal of child neurology” An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.