research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
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810-840 / 1000+ resultsresearch Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency.
Lowering homocyst(e)ine levels can reverse skin and hair lightening by restoring enzyme activity needed for pigmentation.
research Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review
Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
research Hypopigmented thin scalp hairs association with iron deficiency: report of 2 cases.
research Chicken scratches.
Biotinidase deficiency can be easily diagnosed and treated with biotin to prevent serious harm.
research 848 Genes implicated in lipid & metabolic regulation downregulated in CCCA
848 genes related to fat and metabolism are less active in people with Central Centrifugal Cicatricial Alopecia.
research HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
research 125: Individual Severity of Alopecia Tool (SALT) score trajectories of roll-over adolescent patients with alopecia areata (AA) treated with ritlecitinib in the ongoing long-term, open-label, phase 3 ALLEGRO-LT study
research Erythromelanosis Follicularis Faciei: First Case Report from Saudi Arabia
A 17-year-old in Saudi Arabia was diagnosed with a rare skin condition causing red-brown facial patches.
research Red Blood Cells Folate Level in Patients with Alopecia Areata
Red blood cell folate levels are reliable indicators of long-term folate status in alopecia areata patients.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research Serum holotranscobalamine, vitamin B12, folic acid and homocysteine levels in alopecia areata patients
Alopecia areata is not linked to vitamin B12 deficiency.
research 5α-Reductase isozymes and aromatase mRNA levels in plucked hair from young women with female pattern hair loss
Higher enzyme levels found in women with hair loss, suggesting hormone imbalance.
research Endocrine abnormalities in ring chromosome 11: a case report and review of the literature
Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
research A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
A mutation in the KRTHB5 gene causes hair and nail issues.
research Lack of association between Vitamin D receptor FokI polymorphism and alopecia areata.
Vitamin D receptor FokI gene variation is not linked to alopecia areata.
research Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature
Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
research Autosomal Dominant Obstructive Sleep Apnea Syndrome Due to the New Variant c.980_984dup in COL1A2: A Case Report
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.
research Role of Phenylalanine and Its Metabolites in Health and Neurological Disorders
Phenylalanine may help with depression but can cause issues if not properly processed.
research Hereditary vitamin D rickets: a case series in a family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
research Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.
research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research Depression risk of 5-alpha reductase inhibitors: A systematic review and meta-analysis with a focus on comparator groups
5-alpha reductase inhibitors may increase depression risk by 31%, but results vary based on comparison groups.
research Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
research Antipsychotic-Like Properties of 5-α-Reductase Inhibitors
research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research Unusual Cause of Chronic Diarrhea: Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome causes chronic diarrhea and has a poor prognosis despite treatment.
research Biotin deficiency in an infant fed with amino acid formula and hypoallergenic rice
Biotin should be added to Japanese amino acid formula to prevent deficiency.
research Association of single nucleotide polymorphisms in the RAB5B gene 3′UTR region with polycystic ovary syndrome in Chinese Han women
Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.