March 2026 in “Egyptian Journal of Forensic Sciences” Unified regulations and ethical guidelines are needed for fair use of forensic DNA phenotyping.
15 citations
,
January 1987 in “Electrophoresis” Human head hair proteins can be typed into eight distinct patterns, useful for genetic and forensic investigations.
11 citations
,
December 2018 in “Bone” Removing a methyl group from the ITGAV gene speeds up bone formation in a specific type of bone disease model.
1 citations
,
October 2023 in “Heliyon” An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
April 2012 in “Neuropediatrics” Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
11 citations
,
July 2021 in “Physiologia Plantarum” SIPHL1 from tomato enhances plants' response to low phosphate levels.
1 citations
,
February 2014 in “Archiv Der Pharmazie” Carbamates may help treat androgen-dependent conditions by changing how certain lipid enzymes are produced.
6 citations
,
April 2018 in “Transplantation proceedings” A woman experienced severe side effects from a drug due to a specific genetic variation, suggesting genetic testing could prevent such risks.
12 citations
,
August 2019 in “BMC Medical Genetics” Certain MC4R gene variants are linked to higher BMI in obese women with PCOS but do not cause PCOS.
145 citations
,
March 2010 in “Fertility and Sterility” Different types of polycystic ovary syndrome (PCOS) have varying severity, with Type I being the most severe and common.
131 citations
,
March 2004 in “The American journal of pathology” Modulating BMP activity changes the number, size, shape, and type of ectodermal organs.
8 citations
,
December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
6 citations
,
April 2021 in “NAR Genomics and Bioinformatics” PolyQ repeats in neural proteins evolve together, affecting brain function and disease.
May 2022 in “Experimental dermatology” Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
December 2024 in “The Eurasia Proceedings of Science Technology Engineering and Mathematics” Higher ꝩ-GCS enzyme levels in PCOS patients may play a role in the disease.
178 citations
,
May 2006 in “Developmental Dynamics” Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
2 citations
,
November 1996 in “PubMed” Most people have similar hair protein patterns, but a rare variant was found in two women.
9 citations
,
March 2020 in “Gene” Certain gene variants in estrogen receptors are linked to polycystic ovary syndrome, mainly affecting metabolism, in Tunisian women.
December 2010 in “Vestnik dermatologii i venerologii” Certain genes and X chromosome patterns may significantly contribute to the development of hair loss.
July 2002 in “Science Signaling” Modified β-catenin can cause different effects in mouse skin cells, leading to cysts or tumors depending on the cell type.
March 2017 in “European Urology Supplements” Gene differences affect finasteride side effects in men with hair loss.
29 citations
,
August 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes cause the rare hair disorder monilethrix.
January 2004 in “Chinese Journal of Dermatology” Injecting specific oligonucleotides can change hair growth and structure by altering a gene.
26 citations
,
December 2003 in “Experimental Dermatology” Specific keratin gene mutations can cause monilethrix.
September 2021 in “European Neuropsychopharmacology” The research explores how gut bacteria and sleep patterns are related in mental health disorders.
76 citations
,
September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
November 2012 in “The Journal of Urology” Certain gene variants may raise the risk of prostate enlargement, but taking NSAIDs could reduce this risk.
175 citations
,
September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
March 2016 in “The Journal of Urology” The discovery of 5α-reductase deficiency in guevedoces led to the development of important urologic medications.