87 citations
,
March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
21 citations
,
April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
15 citations
,
May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
41 citations
,
June 2022 in “Biomedicines” PCOS should be reclassified into two types based on hormone levels and symptoms.
3 citations
,
September 2018 in “Journal of Structural Biology” Oxidized trichocyte keratin has a helical dislocation in its structure.
January 2017 in “Journal of Chemical Biological and Physical Sciences” Human hair keratin genes have unique simple sequence repeats that may help track genetic variations.
4 citations
,
April 2019 in “Gynecological Endocrinology” Certain gene variations are found in people with polycystic ovary syndrome.
April 1977 in “Pediatric Research”
1 citations
,
January 2017 in “Evolutionary studies” Different human traits like skin color and hair type vary between populations due to genetic adaptations to the environment.
3 citations
,
January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
The new method can tell how hair fibers react to moisture after treatments.
38 citations
,
February 1988 in “Molecular and Cellular Biology” Only one of the two K16 genes on chromosome 17 makes a functional protein for keratin filaments.
9 citations
,
October 1995 in “Clinical Dysmorphology” The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
December 2025 in “ILDS-DEV” December 2018 in “Dermatologic Surgery” 8 citations
,
September 2011 in “Scanning” Multiphoton microscopy effectively images mouse skin layers and structures.
21 citations
,
May 2023 in “The Journal of Allergy and Clinical Immunology In Practice”
2 citations
,
August 2023 in “Development” Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” DKK2 and SOSTDC1 together are necessary for the normal timing of the first regression phase in the hair growth cycle.
11 citations
,
May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
29 citations
,
November 2022 in “Nature Medicine” Genetic variations greatly affect individual metabolism and can impact health and disease risk.
13 citations
,
January 2001 in “Pediatric dermatology” A dark-haired Chinese girl had hair that looked banded under certain light but was normal under a microscope.
January 2023 in “Journal of Clinical and Diagnostic Research” Trichoscopic patterns often overlap in scalp disorders, so dermatologists need to stay updated.
21 citations
,
January 2000 in “Fetal Diagnosis and Therapy” Prenatal diagnosis of trichothiodystrophy is possible in the second trimester using fetal eyebrow biopsy, with sulfur content analysis being more reliable.
68 citations
,
August 2012 in “Journal of the American Academy of Dermatology” Dermatoscopy is a useful tool for diagnosing hair disorders and can help choose samples for more detailed analysis.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Researchers found three types of melanocytes in developing mouse skin, each with different genes and locations.
January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
April 2019 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” PCOS shares similar genetic traits across different diagnosis criteria and is linked to other health conditions.
4 citations
,
August 2013 in “Case reports in dermatology” A patient with total hair loss developed vitiligo after using a treatment called DCP.