20 citations
,
October 1995 in “Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression” hHb1, hHb3, and hHb6 mRNAs start expressing at the same time in hair follicles.
16 citations
,
April 1978 in “Genetics Research” Mice with the ab gene have abnormal sebaceous gland development, affecting sebum production.
18 citations
,
December 2006 in “Clinical dysmorphology” A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
37 citations
,
March 1998 in “Lupus” Aggressive SLE treatment helped hair regrowth and improved oral plaque, but scalp lesions stayed.
46 citations
,
April 1987 in “Brain Research” Hair-follicle nerves in cats' spinal cords can be inhibited by GABA-related connections.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
February 2022 in “International journal of reproduction, contraception, obstetrics and gynecology” Acanthosis nigricans in teenage girls with PCOS is a sign of obesity, not insulin resistance or glucose intolerance.
April 2020 in “Journal of the Endocrine Society” A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.
2 citations
,
September 2004 in “Experimental Dermatology” Keratinocyte adhesion problems can cause skin and hair disorders.
113 citations
,
June 2010 in “Biological Chemistry” Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
6 citations
,
April 2015 in “Infection” Treatment with benzylpenicillin and prednisolone cured the patient's syphilis and hair loss.
275 citations
,
November 2002 in “International Journal of Dermatology” Alopecia areata mainly affects young people and has significant psychological impacts, especially in males.
26 citations
,
May 2024 in “Molecular Neurodegeneration” H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
83 citations
,
October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
18 citations
,
February 2001 in “Der Hautarzt” A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
191 citations
,
November 2007 in “Journal of Biological Chemistry” Very-long-chain acyl-CoA synthetases and fatty acid transport proteins play key roles in fatty acid metabolism and lipid processing in different tissues.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” The gene Tfap2b is essential for creating a type of stem cell in zebrafish that can become different pigment cells.
31 citations
,
June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
7 citations
,
December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
July 2019 in “Dermatology practical & conceptual” The study found that alopecia areata is strongly linked to autoimmune diseases and may indicate a genetic predisposition to such conditions.
35 citations
,
August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
A specific gene change in APCDD1 increases the risk of hair loss.
January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
July 2026 in “Journal of Investigative Dermatology”
January 2021 in “ABC Heart Failure & Cardiomyopathy” A 90-year-old man was diagnosed with heart failure due to wild-type transthyretin cardiac amyloidosis.
28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
March 2013 in “Journal of pediatric nursing” The case emphasizes the need for careful screening in children for insulin resistance and related conditions.
3 citations
,
August 2012 in “The American Journal of Dermatopathology” A man with a birthmark on his scalp developed hair loss that improved with treatment, but the link between the birthmark and hair loss was unclear.
February 2025 in “American Journal of Biomedical Science & Research” A rare combination of hair loss and excessive fine hair growth was found in celiac disease patients.
January 2016 in “Indian dermatology online journal” The patient has frontal fibrosing alopecia (FFA).