research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
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630-660 / 1000+ resultsresearch Nilontinib induced keratosis pilaris atrophicans
Nilotinib can cause skin issues like red bumps and hair loss.
research Congenital Combined Melanocytic Nevus of the Scalp With Associated Alopecia Areata
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.
research Relation of Skin Polyamines to the Hairless Phenotype in Transgenic Mice Overexpressing Spermidine/Spermine N1-Acetyltransferase
Excessive putrescine causes hair loss in transgenic mice by disrupting hair follicle development.
research Dermoscopic Features of Pili Annulati: Features of PA
Pili annulati causes zebra-striped hair but doesn't affect hair strength or quality of life.
research Zinc deficiency or genetic mutations?—A case report of hair heterochromia in the context of MC1R genetic mutations
A boy's hair turned red because of genetic mutations, not lack of zinc.
research Valproic acid monotherapy induced longitudinal melanonychia
Valproic acid can cause dark lines on nails.
research Do Dietary Levels of Pantothenic Acid Regulate Its Intestinal Uptake in Mice?
Mice's intestinal uptake of pantothenic acid is not affected by dietary levels.
research Acrodermatitis enteropathica‐like skin eruption with neonatal seizures in a child with biotinidase deficiency
Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
research Inheritance-Specific Dysregulation of Th1- and Th17-Associated Cytokines in Alopecia Areata
Certain immune-related proteins are higher in people with alopecia and their healthy relatives, hinting at a genetic link.
research Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
research Banded Scalp Hair with an Unusual Glistening Appearance in a Teenager: A Quiz
A teenager's hair with alternating white and dark bands, known as Pili annulati, is a genetic condition that is usually harmless and often considered attractive.
research In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
research Inborn errors of biotin metabolism
Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.
research A Spontaneous Deletion within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype
A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research [Anejaculation caused by haemosiderosis: male infertility in hereditary haemochromatosis].
Early diagnosis and treatment of haemochromatosis are crucial for reversing organ damage and improving fertility.
research Heart Failure Due to Cardiac Transthyretin Amyloidosis
A 90-year-old man was diagnosed with heart failure due to wild-type transthyretin cardiac amyloidosis.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research Pantothenic Acid Deficiency in Baby Pigs
Young pigs need 10-20 mg of calcium pantothenate daily to fully recover from pantothenic acid deficiency.
research Valproic Acid is an Effective Anti-Emetic Treatment in Alexander Disease (P10-9.010)
Valproic acid is a more effective treatment for vomiting in Alexander disease than other medications, with few side effects.
research The coudability sign of alopecia areata: the real story
The document concludes that anticonvulsants like phenytoin may cause skin reactions by affecting tryptophan metabolism and suggests researching vitamin levels in patients with drug reactions.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research Nucleocytoplasmic Communication in Progeria
Defective nuclear transport may cause gene expression changes in Progeria.
research Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss
A gene variant increases the risk of a type of hair loss by affecting hair protein production.
research Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay
Certain genetic variants in keratins increase the risk of tooth decay.
research Risk Factors for Pediatric Alopecia Areata: Clinical and Biochemical Findings from a Case – Control Study
Children with alopecia areata often have vitiligo, allergic asthma, ADHD, and low vitamin B12 and ferritin levels.
research Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature
AE can have varied symptoms and genetic causes, but zinc therapy helps.