23 citations
,
April 2016 in “American Journal of Pathology” The research suggests that a specific skin gene can be controlled by signals within and between cells and is wrongly activated in certain skin diseases.
12 citations
,
July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
May 2018 in “The journal of immunology/The Journal of immunology” Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.
2 citations
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January 2023 in “Bioresource Technology Reports” Mutations in the hairless protein gene cause hair loss.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
June 2014 in “The Journal of Dermatology” A patient with a rare chromosome condition also had a rare type of hair loss.
113 citations
,
June 2010 in “Biological Chemistry” Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
4 citations
,
June 2025 in “Medeniyet Medical Journal” TMPRSS2 is crucial for COVID-19 infection and is a potential target for treatment.
January 2025 in “Ege Tıp Bilimleri Dergisi” Radiotherapy affects mitochondrial-related genes in metastatic breast cancer cells.
21 citations
,
August 2002 in “British Journal of Ophthalmology” March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
1 citations
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August 2021 in “Movement disorders clinical practice” A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
August 2025 in “Biomedicines” Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.
October 2024 in “Journal of the Endocrine Society” Misdiagnosis led to unnecessary treatment due to a genetic mutation affecting thyroid hormone resistance.
3 citations
,
January 2013 in “Dermatology” New genetic mutations causing hair loss were found in a Chinese family.
January 2024 in “Wiadomości Lekarskie” Pre-surgical embolization and a two-stage resection improve outcomes for rare sacral tumors.
3 citations
,
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.
7 citations
,
May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
September 2017 in “PubMed” Monilethrix is a rare genetic hair disorder with no cure, but low-dose oral minoxidil may help.
August 2020 in “Pakistan Journal of Zoology” A new mutation in the Hairless gene causes hair loss in two Pakistani families.
50 citations
,
March 2018 in “BMC Genomics” Non-coding RNAs help control hair growth cycles in cashmere goats, suggesting ways to improve cashmere production.
10 citations
,
May 2016 in “bioRxiv (Cold Spring Harbor Laboratory)” Lipid metabolism affects wool thickness in sheep.
14 citations
,
July 2021 in “Bioinformatics” rPanglaoDB helps study rare cell types by merging RNA data, showing fibrocytes aid in healing.
March 2025 in “OncoTargets and Therapy” A specific genetic trait in tumor cells is linked to longer survival without disease in certain lymphoma patients.
29 citations
,
June 2017 in “Journal of Inherited Metabolic Disease” High-content screening is useful for finding new treatments for rare diseases and has led to FDA-approved drugs.
January 2016 in “ACG Case Reports Journal” A girl with Rapunzel syndrome had surgery to remove a hairball, and addressing mental health is important to prevent it from happening again.
4 citations
,
July 2019 in “Clinical and experimental dermatology” Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
A 29-year-old woman with symptoms of both lupus and rheumatoid arthritis improved with specific medications.
10 citations
,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.