20 citations
,
February 2019 in “Genes” This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.
3 citations
,
January 2013 in “Türk veterinerlik ve hayvancılık dergisi/Turkish journal of veterinary and animal sciences” This report describes the first documented case of cutaneous asthenia in a crossbred spayed cat from Turkey, characterized by hyperelastic skin, alopecia, and an ulcerative wound.
7 citations
,
January 2020 in “Journal of Dermatology” This study described specific skin and hair follicle abnormalities in three Japanese patients with Cantu syndrome, which may relate to the regulation role of SUR2 in hair follicle growth.
10 citations
,
November 2024 in “Nature Reviews Cardiology” Skin conditions can signal heart issues, highlighting the need for integrated care.
1 citations
,
July 2016 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
This chapter reviews various fungal skin diseases affecting cattle but does not report new research findings; it focuses on rare, inherited, and congenital conditions like follicular dysplasia and cutaneous asthenia.
12 citations
,
May 2001 in “British journal of dermatology/British journal of dermatology, Supplement” A rare benign skin tumor showed unusual features of sebaceous and sweat glands, important for correct diagnosis.
March 2026 in “Preprints.org” This study investigated the secretome of adipose mesenchymal stem cells and fibroblasts used in skin care products, finding 16 therapeutic pathways involving numerous signaling mechanisms, which may offer skin benefits through anti-inflammatory and regenerative effects.
May 1991 in “Current problems in dermatology” This article reviews the relationship between the skin and the immune system and discusses how skin manifestations can indicate immunodeficiencies but reports no new research findings.
This review found an increased prevalence of common skin disorders, such as infectious and inflammatory conditions, in patients with Down syndrome and highlighted the need for improved screening and management guidelines.
January 2024 in “Genetics in Medicine Open” This case study of a patient with a variant in the extracellular region of IL6ST suggests a potential expansion of the phenotypic spectrum for autosomal dominant hyper-IgE syndrome, warranting further investigation.
May 2024 in “Animal genetics” The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.
January 2026 in “BMC Veterinary Research” The researchers reported finding a recessive nonsense variant in the EGFR gene responsible for perinatal lethality in the "Blonde d'Aquitaine" cattle breed, prompting the development of a screening test to help eradicate this genetic flaw.
December 2025 in “Italian Journal of Anatomy and Embryology” This narrative literature review examined how linking embryonic development with non-genetic skin anomalies can improve diagnostic accuracy, guide prenatal counseling, and enrich dermatology education by revealing specific vulnerabilities in skin morphogenesis and supporting advances in regenerative medicine.
1 citations
,
November 1953 in “Archives of Dermatology” This case presentation by Dr. Howard Fox describes a persistent skin eruption in a woman following sun exposure and the use of a specific lotion, highlighting diagnostic challenges between Lupus Erythematosus and Erythema Perstans but reports no definitive diagnosis.
9 citations
,
October 2022 in “Journal of Molecular Neuroscience” This study reports a novel LSS gene mutation in an Egyptian family with alopecia intellectual disability syndrome 4, expanding the known clinical and genetic features of the condition.
36 citations
,
January 2012 in “International Journal of Trichology” This review discusses madarosis, its diverse causes, and suggests follicular unit transplantation as a useful treatment for scarring types, but reports no new clinical results.
10 citations
,
February 2022 in “JMIR Dermatology” This systematic review indicates that patients with Down syndrome have an increased prevalence of various dermatologic disorders, especially infectious, inflammatory, autoimmune, and connective tissue conditions.
144 citations
,
March 2013 in “Circulation Research” This study reports that mutations in the SUR2 gene are linked to Cantu syndrome, highlighting the role of KATP channels in cardiovascular health and potential new therapies.
14 citations
,
January 2018 in “Endocrine” This report describes a three-generation family with Cantú syndrome linked to a novel ABCC9 gene variant, featuring acromegaloid appearance and hypertrichosis without growth hormone abnormalities, and suggests a potential association with pituitary adenomas.
January 2024 in “Frontiers research topics” This research abstract outlines the innovative approach of the Frontiers journal series, which aims to transform academic publishing by providing open access, interdisciplinary journals that employ a rigorous peer-review process to serve both scholarly communities and the public.
1 citations
,
April 2023 in “Frontiers in Genetics” This report on individuals with AEBP1-related classical-like EDS confirmed previous findings and identified hair loss as a potential characteristic feature of this rare condition for the first time. Additionally, cardiovascular complications observed in some individuals suggest that cardiovascular monitoring may be necessary.
1 citations
,
May 2023 in “European Journal of Human Genetics” This study observed that numerical chromosomal aberrations were more common in men with severe male factor infertility and azoospermia compared to those with other sperm quality issues, while chromosomal translocations were significantly associated with oligoasthenozoospermia, highlighting important genetic counseling considerations.
148 citations
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May 2012 in “The American Journal of Human Genetics” This study identified heterozygous mutations in the ABCC9 gene as the genetic basis of Cantú syndrome, suggesting the syndrome as a new member of potassium channelopathies.
26 citations
,
July 2020 in “Fertility and Sterility” Male infertility and genitourinary birth defects are often linked to genetic issues.
1235 citations
,
December 2013 in “Nature” This study found that skin fibroblasts in mice arise from two distinct lineages which contribute differently to dermal structure and repair, impacting hair follicle formation during wound healing.
1039 citations
,
February 2009 in “Nature Reviews Molecular Cell Biology” This review discusses the reuse of molecular mechanisms involved in embryonic skin development for maintaining adult epidermal homeostasis and reports no new results.
788 citations
,
February 2007 in “Nature” This review explores how adult skin epithelia preserve stem cell populations for hair follicle regeneration and wound healing, but reports no new experimental results.
610 citations
,
April 2014 in “Nature Reviews Immunology” This review discusses the complex mechanisms regulating skin immunity to balance host defense with inflammation, but reports no new findings.
578 citations
,
April 1993 in “Cell” This study found that mice with a disrupted TGFα gene display a curly whisker-coat phenotype, similar to waved-1 mice, suggesting TGFα's crucial role in skin architecture and hair development.