4 citations
,
October 2021 in “Journal of Clinical Medicine” This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
8 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified biallelic variants in the LSS gene as a possible genetic cause of palmoplantar keratoderma-congenital alopecia syndrome type 2, highlighting the role of cholesterol synthesis in skin cornification.
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.
10 citations
,
March 2019 in “Human Genetics” This study identified a genetic variant in the SGK3 gene related to hairlessness in Scottish Deerhounds, suggesting a similar role for androgen-independent hair loss in humans.
9 citations
,
June 2020 in “Animal genetics” In this study, researchers identified genetic variants in the PCCA and PRLR genes that are significantly associated with hair coat length in Brangus heifers, potentially contributing to more thermotolerant cattle.
9 citations
,
April 2020 in “Journal of dermatology” This case report describes a Thai male with TRPS1 who exhibited unique and unreported features such as hypoplastic mandibular condyles, double mental foramina, and distinctive hair abnormalities.
2 citations
,
July 2015 in “Archives of Dermatological Research” This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.
9 citations
,
February 2022 in “Nature communications” This study identified KRT82 as a significant Alopecia Areata risk gene, finding that rare damaging variants are linked to elevated immune cell infiltration around hair follicles in affected individuals.
5 citations
,
May 2018 in “PloS one” This study demonstrated that both classical and atypical BSE strains from cattle can be transmitted to goats, highlighting the importance of surveillance in protecting public health.
January 2018 in “Stem cell biology and regenerative medicine” This review discusses how the nuclear lamina integrates biochemical and mechanical signals to influence gene expression and skin homeostasis, but reports no new clinical results.
7 citations
,
May 2019 in “European Journal of Human Genetics” This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.
This review discusses various syndromes of severe insulin resistance, their biochemical and clinical features, and potential therapeutic options, but it reports no new clinical results.
21 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified specific germline and somatic mutations in the Phospholipase C Delta 1 gene as high-risk factors for developing hereditary trichilemmal cysts, involving a monoallelic two-hit mechanism.
6 citations
,
August 2006 in “Journal of Cutaneous Pathology” This case report describes two brothers with an unusual, possibly treatment-resistant inflammatory variant of androgenic alopecia, featuring follicular isthmic lymphocytic inflammation and diffuse central scalp hair loss.
May 2020 in “Research Square (Research Square)” This study found that trichilemmal carcinoma shares genetic changes with other skin cancers, suggesting a similar pathogenesis, particularly in those with aggressive clinical courses linked to TP53 mutations.
April 2020 in “Research Square (Research Square)” This study reported genetic mutations in trichilemmal carcinoma similar to those found in other skin cancers, including TP53 mutations associated with aggressive disease.
3 citations
,
February 2020 in “The journal of gene medicine” This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.
53 citations
,
January 2011 in “Diabetes” The study found that severe insulin resistance and premature diabetes are common in patients with PCNT genetic defects, primarily affecting those over four years old, while not impacting early insulin signaling in adipocytes.
1 citations
,
April 2023 in “International Journal of Molecular Sciences” This review discusses advances in CRISPR/Cas9 variants and nanoformulations for cancer treatment, noting challenges and prospects for clinical application, but reports no new research results.
December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
March 2023 in “JAAD case reports” This article reviews the genetic foundations of keratins in maintaining epithelial tissue integrity and links specific keratin variants to diverse ichthyosis forms, without presenting new clinical findings.
18 citations
,
October 2021 in “Frontiers in Physiology” This review summarizes recent research on the molecular properties and functions of L-PGDS and PGD2, but reports no new findings, highlighting their pathophysiological roles and guiding future studies.
November 2024 in “Journal of Investigative Dermatology” Genetic changes in specific proteins contribute to hair loss in some women of African descent.
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.
21 citations
,
February 2016 in “Reproductive Biomedicine Online” This review examines how genetic variants associated with polycystic ovary syndrome affect reproductive success differently in men and women, supporting the theory that intralocus sexual conflict may explain its persistence.
6 citations
,
June 2012 in “PloS one” This study identified a novel SCF mRNA splice variant in white merino sheep skin, which may play a role in hair follicle melanogenesis.
2 citations
,
July 2021 in “Genes” This study identified a new genetic variant in the KRT71 gene responsible for a breed-specific form of hypotrichosis in Hereford cattle, potentially serving as a model for similar human conditions.
10 citations
,
November 2018 in “Genetics in medicine” This study identified a genetic variant in the CTS6 gene associated with a hypotrichosis syndrome, emphasizing the significant role of cystatin M/E in hair and skin health.
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.
10 citations
,
September 2021 in “American Journal of Medical Genetics Part A” This study on Qatari patients with Woodhouse-Sakati syndrome highlights the high incidence and diverse clinical presentation due to a specific genetic variant, emphasizing early diagnosis for effective management.