January 1990 in “Advances in forensic haemogenetics” This study used one-dimensional SDS electrophoresis to examine low sulfur proteins in hair samples from multiple generations within five families, but does not report new results.
11 citations
,
January 1987 in “Electrophoresis” This study found that keratin phenotypes were consistent across different types of hair from the same individual, allowing for successful keratin typing following ABH blood group determination.
This study found that both AB(0) antigens and keratin phenotype can be determined from the same hair fragment using specific protein extraction and analysis methods.
15 citations
,
January 1987 in “Electrophoresis” This study found that electrophoretic keratin typing of head hair can identify specific polypeptide patterns, suggesting potential applications in genetic and forensic investigations.
24 citations
,
May 2019 in “PLOS genetics” This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.
2 citations
,
September 2022 In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.
2 citations
,
March 2023 in “Research Square (Research Square)” This review discusses existing forensic DNA phenotyping panels for biogeographical ancestry and externally visible characteristics and highlights major technical limitations, including terminology issues, genetic knowledge gaps, and technological debates; it reports no new results.
March 2026 in “Egyptian Journal of Forensic Sciences” This review critically examines Forensic DNA Phenotyping, highlighting high accuracy in predicting certain traits but also legal and ethical challenges, particularly around regulatory fragmentation and issues of genetic privacy.
January 2025 in “Iraqi Journal of Science” This study found that variations in the genes PDCD4, miR-21, and miR-449b may significantly influence breast cancer progression, with higher PDCD4 serum levels linked to increased breastfeeding.
1 citations
,
May 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that ulcerative colitis is associated with diverse molecular changes and chronic inflammation, with some biomarker levels partially recovering during remission.
55 citations
,
March 2015 in “Carcinogenesis” This study found that WNT10A is significantly upregulated in human esophageal squamous cell carcinoma and is associated with enhanced tumor cell migration, invasion, and poor survival.
13 citations
,
March 2020 in “Genes” This study found that FGF5-/- rabbits exhibited a significant long hair phenotype by prolonging the anagen phase, suggesting FGF5 acts as a negative regulator of hair growth.
November 2022 in “Van Sağlık Bilimleri Dergisi” This study found no association between W locus allele variations and phenotypic traits like eye color, head spotting, and fur length in Turkish Van cats, suggesting other genetic factors should be explored.
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.
14 citations
,
January 1977 in “PubMed” This study found that a specific variant in hair keratin was present mainly in Caucasian samples, with few exceptions showing likely Caucasian admixture.
75 citations
,
April 2000 in “Developmental Dynamics” This study suggests that the structural integrity and physical proximity of Whn's DNA binding and activation domains are crucial for hair keratin gene activation and may explain the nude phenotype.
87 citations
,
March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” This paper discusses X-linked ichthyosis and its genetic causes, focusing on biochemical pathways and their role in epidermal differentiation and barrier function, but it presents no new clinical findings.
29 citations
,
January 2021 in “G3 Genes Genomes Genetics” This study identified a 195 bp duplication in crested chickens that causes large crest feathers and can be associated with cerebral hernia in some breeds, but not all.
11 citations
,
July 2021 in “Physiologia Plantarum” In this study, the gene SlPHL1 was identified as a transcription factor in tomatoes that enhances phosphate starvation responses by upregulating specific genes.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” This article presents an overview of uncombable hair syndrome, emphasizing its clinical and molecular characteristics and noting systemic manifestations such as neuropsychiatric, ophthalmic, and cardiopulmonary issues.
116 citations
,
August 2010 in “Nature” Scientists turned rat thymus cells into stem cells that can help repair skin and hair.
35 citations
,
April 2008 in “Journal of Biological Chemistry” This study found that the lack of expression and deletion of specific hair keratin genes on chromosome 7q36 in Hirosaki hairless rats suggests the crucial role of these genes in hair growth.
89 citations
,
April 2023 in “Forensic Science International Genetics” This review summarizes advancements in forensic DNA phenotyping for appearance, ancestry, and age prediction from crime scene samples, reporting no new research findings but highlighting areas needing further research and validation.
75 citations
,
September 2007 in “Journal of Heredity” This study found that mutations in the FGF5 gene are the primary genetic factor causing long hair in domestic cats through an autosomal recessive mechanism.
51 citations
,
January 2007 in “Animal Genetics” This study identified the location of the genetic locus for the slick hair coat trait in cattle on bovine chromosome 20, which may contribute to heat tolerance.
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.
4 citations
,
March 2024 in “Forensic Sciences Research” This review found that current forensic DNA phenotyping panels for biogeographical ancestry and visible traits face significant limitations due to inconsistencies in terminology, genetic understanding, and genotyping technologies, highlighting the need for harmonization and further research.
December 2025 in “Egyptian Journal of Basic and Applied Sciences” This study observed that FOXA1 and CCL2 gene expression levels were significantly elevated in women with different PCOS phenotypes compared to healthy controls, indicating phenotype-specific molecular variations which could inform personalized treatment strategies for infertility in PCOS.
June 2023 in “Animal Bioscience” This study observed that vimentin and transthyretin proteins were more highly expressed in black sheep skins compared to white, suggesting their involvement in coat color formation.
December 2022 in “IntechOpen eBooks” This paper discusses forensic DNA phenotyping, emphasizing its ability to infer visible traits from biological samples without reference samples, but notes ethical and legal concerns related to its use.