3 citations
,
May 2018 in “The American Journal of Medicine” This case report describes a 33-year-old woman with long-standing scalp issues and hair loss, revealing an unusual connection to past melanoma, but it presents no new research results.
3 citations
,
February 2018 in “Human Reproduction” This study reports that a young man with severe testotoxicosis maintained spontaneous fertility despite suppressed FSH levels, underscoring the importance of high intratesticular testosterone levels for spermatogenesis.
2 citations
,
May 2018 in “Expert opinion on orphan drugs” This review discusses Omenn syndrome, a form of severe combined immunodeficiency, highlighting its immunopathology and genetic defects without presenting new clinical results.
2 citations
,
January 2002 in “Hormone Research in Paediatrics” This review discusses molecular testing for endocrine diseases, highlighting its diagnostic benefits and potential for prevention, particularly in conditions like multiple endocrine neoplasia type 2 and adrenogenital syndrome, but reports no new clinical results.
1 citations
,
October 2023 in “Heliyon” In this study, the researchers reported a new case of Hutchinson-Gilford progeria syndrome with a novel LMNA mutation and successful surgical intervention for airway obstruction.
1 citations
,
February 2009 in “Journal of Investigative Dermatology” This review discusses insights into the role of lipase H in controlling hair form and texture, emphasizing genetic mutations linked to autosomal recessive woolly hair/hypotrichosis, and reports no new experimental results.
March 2026 in “JID Innovations” In a mouse model study, researchers found that mutations in Aire reduced alopecia areata frequency, while Notch4 mutations did not lead to the disease, likely due to proximity with a resistance gene.
March 2025 in “MINAR International Journal of Applied Sciences and Technology” This study reviewed evidence on the role of specific genes (FKBP12, SAMAHD1, TRF2, CD155, and GATA3) in predicting how breast cancer patients might respond to adjuvant chemotherapy, aiming to monitor these markers in blood or tissue samples.
November 2023 in “Scientific Reports” In this study, researchers used NIH hairless mice to uncover genetic markers associated with hair loss and identified a Lama3 point mutation as a potential genetic contributor, creating a mutant mouse model that may advance the study of androgenetic alopecia.
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.
June 2019 in “Pediatric Dermatology” This review discusses the pathogenesis and clinical presentations of alopecia in epidermolysis bullosa patients, noting diverse hair abnormalities and emphasizing the lack of a consensus on its natural history.
223 citations
,
January 2014 in “International Journal of Molecular Sciences” This article reviews the complex signaling pathways between epithelial and mesenchymal cells crucial for hair follicle morphogenesis, highlighting the Wnt pathway's role as a master regulator without reporting new experimental findings.
103 citations
,
March 2011 in “PLoS Biology” This study found that a mutation in the BMP12/GDF7 gene is associated with the Naked neck trait in chickens, reducing neck feathering due to altered signaling pathways.
99 citations
,
October 2008 in “Journal of Investigative Dermatology” This study identified genetic mutations linked to congenital ichthyosis in families from the UAE and Turkey, revealing a connection between keratinization disorders and impaired filaggrin processing.
74 citations
,
October 2012 in “The American Journal of Human Genetics” This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.
49 citations
,
October 2009 in “Cancer research” This study found that disrupting Stat3 in keratinocyte stem cells of mice reduced skin tumor formation by approximately 80%, suggesting Stat3's role in tumor initiation survival mechanisms.
22 citations
,
December 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that mice with a mutation in the Zdhhc13 gene exhibited increased susceptibility to skin cancer, highlighting a potential protective role of palmitoyl acyltransferase in skin carcinogenesis.
19 citations
,
May 2016 in “Biology Direct” This study presents iSiMPRe, a method identifying protein regions enriched in mutations, revealing potential cancer-related genes and enhancing understanding of mutation effects across a wide range of cancer types.
17 citations
,
March 2012 in “The Journal of Pathology” This article argues that lineage labeling with genetic markers is the gold standard for identifying epithelial stem cells, contrary to the view that in vitro methods alone are sufficient.
17 citations
,
June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.
12 citations
,
September 2022 in “Frontiers in Genetics” This study identified seven genes that may serve as biomarkers for diagnosing skin cutaneous melanoma by analyzing the relationship between UV exposure, ferroptosis, and the cancer's pathology.
4 citations
,
January 2023 in “Journal of Clinical Investigation” This study identified a recurrent mutation in the endothelin receptor type A associated with mandibulofacial dysostosis with alopecia, and proposed a mechanism involving increased ligand affinity due to structural changes.
4 citations
,
December 2021 in “Journal of clinical laboratory analysis” This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.
28 citations
,
December 1997 in “Journal of Biological Chemistry” This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.
7 citations
,
March 2022 in “Scientific reports” In this study, researchers found that pigs with genetically disrupted ANTXR1 were resistant to Senecavirus A infection, showing no clinical symptoms, and provided a model for human GAPO syndrome, while confirming ANTXR1 as a receptor for the virus.
4 citations
,
July 2022 in “The Journal of Clinical Endocrinology & Metabolism” This study identified a novel homozygous mutation in the 5'-UTR of the POMC gene, suggesting a new molecular mechanism for the syndrome of adrenal insufficiency, obesity, and red hair.
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.
2 citations
,
January 1997 in “Principles of Medical Biology” This article reviews the role of enzymatic processes in drug and toxin metabolism, emphasizing their impact on solubility and elimination, without presenting new clinical findings.
157 citations
,
May 2021 in “Endocrine Reviews” This review discusses recent advancements in understanding and managing congenital adrenal hyperplasia, including improvements in screening, diagnostics, and potential genetic and cell-based treatments, but reports no new clinical findings.