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Complete Defect in PA-PLA1α Secretion Function Leading to Autosomal Recessive Woolly Hair and Hypotrichosis: Insights from a Novel Compound Heterozygous LIPH Variant Study in a Chinese Pedigree

research Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree

May 2025 in “Frontiers in Genetics”

A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.

research STAT5 Activation in the Dermal Papilla Is Important for Hair Follicle Growth Phase Induction

32 citations , April 2016 in “Journal of Investigative Dermatology”

STAT5 activation is crucial for starting the hair growth phase.

research Investigation of Vaspin and Visfatin -4689G/T Gene Polymorphisms in Alopecia Areata Patients

August 2024 in “OSMANGAZİ JOURNAL OF MEDICINE”

The visfatin GT genotype may increase the risk of Alopecia Areata.

research Transgenic mice overexpressing protein kinase C epsilon in their epidermis exhibit reduced papilloma burden but enhanced carcinoma formation after tumor promotion.

99 citations , February 2000 in “PubMed”

Overexpressing PKCepsilon in mice reduces papillomas but increases carcinomas.

research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets

7 citations , June 2016 in “Bone Research”

A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

research Pax9 is required for filiform papilla development and suppresses skin-specific differentiation of the mammalian tongue epithelium

56 citations , July 2004 in “Mechanisms of Development”

Pax9 is crucial for proper tongue surface development and preventing skin-like changes.

research Early Dengue Virus Infection in Human Skin: A Cycle of Inflammation and Infectivity

6 citations , July 2015 in “Journal of Investigative Dermatology”

Chicken feather gene mutation helps understand human hair disorders.

research Genetic deletion of TNFα inhibits ultraviolet radiation-induced development of cutaneous squamous cell carcinomas in PKCε transgenic mice via inhibition of cell survival signals

11 citations , November 2015 in “Carcinogenesis”

Deleting TNFα gene reduces skin cancer risk in certain mice.

research Trichodysplasia Spinulosa: Rare Presentation of Polyomavirus Infection in Immunocompromised Patients

12 citations , November 2014 in “Journal of Cutaneous Medicine and Surgery”

Antiviral medication valganciclovir may improve skin and hair in Trichodysplasia Spinulosa patients.

research The keratins and their disorders

53 citations , September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics”

Mutations in keratin genes cause cell fragility and various skin disorders.

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