45 citations
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May 2024 in “International Journal of Molecular Sciences” This manuscript reviews the latest understanding of alopecia areata's pathogenesis, highlighting the roles of genetic, immunological, and environmental factors, with a focus on immune responses involving IFN-γ and cytotoxic CD8+ T-cells as key contributors to hair follicle inflammation and function disruption without follicle destruction.
4 citations
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November 2020 in “BMC Dermatology” This study identified 374 eQTLs in scalp hair follicles associated with genes involved in metabolic, mitotic, immune processes, and responses to steroid hormones, contributing insights into genetic variation and hair traits.
1 citations
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May 2023 in “Frontiers in Endocrinology” This research suggests that autism's genetic links are partially related to factors influencing physiological sex differences, with rare variants interacting with placental sex differences and common variants affecting steroid-related traits.
January 2025 in “Clinical Cosmetic and Investigational Dermatology” This article reports the first documented cases of Marie-Unna hereditary hypotrichosis in Egypt, highlighting the variability of genetic mutations in this rare form of congenital hair loss.
September 1997 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This article reviews diagnosis and treatment guidelines for androgenetic alopecia, highlighting that medical treatments like finasteride and minoxidil can arrest progression and improve hair conditions in most mild to moderate cases.
August 2026 in “Frontiers in Medicine” This study suggests that low-dose IL-2 and IL-15 may help restore immune tolerance in alopecia areata by maintaining Treg cell function, presenting a potential new treatment strategy.
6 citations
,
July 2021 in “Frontiers in Genetics” This study identified a new heterozygous missense variant in CST6 associated with autosomal dominant keratosis follicularis spinulosa decalvans in an Austrian family, affecting epidermal differentiation and hair formation.
February 2025 in “Journal of Investigative Dermatology” The ZIP13 variant is linked to abnormal hair quality.
July 2025 in “Human Genomics” This source reports that a comprehensive review of LSS gene variant phenotypes enhances understanding of congenital hypotrichosis 14 and could guide more precise genetic counseling and future research into disease mechanisms and potential therapies.
34 citations
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October 2017 in “Archivos Argentinos De Pediatria” This review discusses the clinical characteristics, diagnosis, and treatment of alopecia areata, exploring potential environmental, immunological, and genetic factors involved in its development, but reports no new research findings.
29 citations
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March 2019 in “British Journal of Dermatology” Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
27 citations
,
August 2014 in “Wiley interdisciplinary reviews. Developmental biology” This review highlights similarities in the development of thymus and skin epidermis, reporting no new results; the authors emphasize shared molecular mechanisms despite different embryonic origins.
14 citations
,
December 2021 in “International journal of molecular sciences” This article reviews current knowledge and research gaps on growth hormone in hair follicle biology, highlighting its complex role and suggesting further exploration to reveal nonclassical skin functions.
6 citations
,
January 2014 in “The Journal of Advances in Parasitology” This study observed that dogs with sarcoptic mange exhibited symptoms like intense itching and restlessness, along with specific haematological and biochemical abnormalities compared to healthy dogs.
1 citations
,
May 2023 in “Journal of molecular evolution” This study explored the molecular biology of skin adaptations in pangolins, revealing that certain genes for lipid synthesis have inactive patterns, while others related to skin function remain intact, suggesting complex evolutionary changes in their skin physiology.
1 citations
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December 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study investigated pangolin skin genetics, finding that while sweat gland-related genes are not inactivated, several genes related to sebaceous gland function are, which highlights complex evolutionary adaptations in mammalian skin.
October 2007 in “Journal of Investigative Dermatology” The meeting highlighted the genetic basis of female pattern hair loss and various skin health insights.
97 citations
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March 2002 in “Molecular and cellular biology” This study found that mice with a mutant CDP/Cux protein lacking the homeodomain showed severely impaired growth, high postnatal mortality, and reduced fertility, highlighting CDP/Cux's role in developmental regulation.
1 citations
,
September 2021 in “Frontiers in genetics” This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.
68 citations
,
November 2012 in “Journal of Investigative Dermatology” This study found that PGD2 inhibits hair follicle regeneration in mice through the Gpr44 receptor, suggesting that blocking PGD2 or Gpr44 may enhance skin regeneration after wounds.
48 citations
,
April 2010 in “Journal of the European Academy of Dermatology and Venereology” This article reviews gender differences in skin disorders, highlighting variations in disease prevalence and type between sexes, but reports no new findings, emphasizing potential implications for prevention and treatment strategies.
45 citations
,
January 2010 in “Journal of Veterinary Medical Science” This study identified a mutation in the keratin 71 gene that causes curly hair in certain rats, advancing our understanding of hair formation.
7 citations
,
March 2022 in “Frontiers in Genetics” This study identified genetic loci and pathways associated with long hair growth in the Tianzhu white yak, providing new insights into the genetic mechanisms of this trait.
7 citations
,
October 2020 in “Wiener medizinische Wochenschrift” This paper presents a case study of a 21-year-old male with thyroid hemiagenesis, where the left thyroid lobe and isthmus are absent, and discusses the anomaly's potential clinical consequences based on existing literature.
5 citations
,
February 2019 in “PloS one” This study found that structural defects in the hair shafts of sighthounds with bald thigh syndrome are related to a downregulation of genes and proteins essential for hair shaft formation.
5 citations
,
February 2019 in “The New England Journal of Medicine” This article discusses the composition and function of the dermal papilla in hair follicles, focusing on its role in hair shaft generation and suggesting that cell loss in this area may contribute to hair loss.
4 citations
,
January 2014 in “Dermatology” This case report details a woman with autoimmune primary ovarian insufficiency linked to hormonal contraception discontinuation, who achieved pregnancy through ovarian stimulation and in vitro fertilization despite typically low fertility in such conditions.
September 2021 in “Research Square (Research Square)” This study reports that despite rescuing neurulation and skin barrier defects, Grhl3 gene overexpression in mice leads to hearing impairment, hair loss, and other developmental abnormalities, highlighting low tolerance for Grhl3 dysregulation.
178 citations
,
May 2006 in “Developmental Dynamics” This review discusses the role of jumonji family proteins in chromatin regulation and development, highlighting their involvement in transcriptional repression and histone demethylation, but reports no new experimental findings.
128 citations
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March 2006 in “American Journal of Pathology” The study found that prolactin expressed in human scalp hair follicles acts as an autocrine modulator, inhibiting hair growth and promoting hair follicle regression, which may contribute to hair loss in hyper-prolactinemia patients.