July 2022 in “Journal of Investigative Dermatology” A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.
August 2024 in “OSMANGAZİ JOURNAL OF MEDICINE” The visfatin GT genotype may increase the risk of Alopecia Areata.
88 citations
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August 1998 in “Carcinogenesis” High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
April 2024 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A new change in the WNT10A gene caused a condition leading to short hair growth in a Chinese family.
1 citations
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September 2021 in “Cureus” The rs1128977 gene variant may affect cholesterol and body measurements.
53 citations
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August 2019 in “American journal of human genetics” FOXN1 gene variants cause low T cells and immune issues from birth.
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
October 2007 in “Revue du Rhumatisme” 2 citations
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September 2017 in “Journal of Investigative Dermatology” Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
73 citations
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June 2006 in “Animal genetics” The FGF5 gene determines hair length in dogs.
The AMHR2-482A>G gene change is linked to higher PCOS risk.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
10 citations
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May 2020 in “International Journal of Molecular Sciences” Hair follicles can be used to study gene mutations in Stargardt disease.
3 citations
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February 2001 in “British journal of ophthalmology” An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
46 citations
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September 2007 in “Journal of Investigative Dermatology” CCC1 is essential for ion balance and proper plant cell function.
Genetic analysis of rabbits identified key genes for traits like coat color, body size, and fertility.
24 citations
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May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
October 2023 in “Lithuanian University of Health Sciences” The TG5 gene affects beef cattle weight, and the CC genotype leads to higher weights.
44 citations
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August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
March 2022 in “Oncology Times” Tebentafusp-tebn improves survival rates in uveal melanoma patients but has common side effects like rash and fatigue.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
May 2017 in “The journal of immunology/The Journal of immunology” Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.
10 citations
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January 2010 in “Veterinary pathology” A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.
72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
215 citations
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November 2000 in “Journal of Investigative Dermatology” The system allows precise control of gene expression in mouse skin, useful for studying skin biology.
97 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
13 citations
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June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
August 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Normal cells outcompete and remove mutant cells in the pancreas with the help of the EphA2 receptor.
5 citations
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February 2019 in “The New England Journal of Medicine” Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.