5 citations
,
February 2005 in “Journal of the American Academy of Dermatology” Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
101 citations
,
June 2003 in “The EMBO Journal” Phospholipase Cδ1 is crucial for normal skin and hair development.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
3 citations
,
August 2024 in “The Journal of Cell Biology” Actin filaments help stabilize and reshape cell membranes.
November 2025 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
95 citations
,
September 2012 in “Oman Medical Journal” Mutations in keratin genes can cause skin and mucosa disorders.
3 citations
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January 2022 in “Medical Mycology Journal” Malassezia fungi in healthy noses can form a "spaghetti-and-meatballs" structure.
January 2007 in “Journal of Inner Mongolia University” The research helps in creating genetically modified animals to study hair growth.
98 citations
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December 2015 in “The Journal of Cell Biology” Keratin is crucial for skin barrier formation and affects mitochondrial function.
65 citations
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March 2004 in “Journal of Clinical Investigation” Inhibiting ornithine decarboxylase may help prevent certain skin cancers.
August 2021 in “Journal of Investigative Dermatology” ILC1-like cells can cause alopecia areata by disrupting hair follicle immunity, suggesting a new treatment approach.
7 citations
,
May 2022 in “Cancers” UC.145 may be a new biomarker for predicting gastric cancer.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” DKK2 and SOSTDC1 together are necessary for the normal timing of the first regression phase in the hair growth cycle.
9 citations
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July 2016 in “Genes” Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
January 2023 in “Journal of orthopedics & bone disorders” Platelet-rich plasma may not be very effective for bone healing and hair growth due to a substance it contains that blocks these processes.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The study suggests that a specific type of immune cell, memory-like NK cells, may increase during active hair loss in Alopecia areata.
24 citations
,
October 2019 in “Genes” A new sheep gene, KRTAP36-1, may help breed sheep with better wool by reducing prickle factor.
June 2003 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” GLABRA2 represses root hair formation by inhibiting a specific gene.
January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
4 citations
,
September 2004 in “Experimental Dermatology” Mutations in certain skin proteins cause severe skin issues, while others have limited effects, highlighting the need to understand these proteins for better treatments.
9 citations
,
September 2006 in “Veterinary pathology” A dog with unusual skin lesions near its tail was successfully treated for a rare form of lupus.
12 citations
,
January 2014 in “Cell structure and function” Different combinations of human hair keratins affect how hair fibers form.
1 citations
,
June 2022 in “Chinese medical journal/Chinese Medical Journal” Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
10 citations
,
January 2010 in “International journal of trichology” Keratin-associated proteins are part of the developing hair fiber cuticle.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
December 2021 in “Figshare” BBS7 is crucial for maintaining healthy gums through Shh signaling.
November 2020 in “Journal of animal science/Journal of animal science ... and ASAS reference compendium” Certain genetic variants in PRLR and PCCA genes may lead to shorter hair in cattle, which could help with heat tolerance.
29 citations
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October 2016 in “Cell death and differentiation” ΔNp63α stops TAp73β from working in skin cancer by blocking its access to specific genes, not by directly interacting with it.