research Gene-wide association study between the aromatase gene (CYP19A1) and female pattern hair loss
Aromatase gene variation may increase female hair loss risk.
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90-120 / 1000+ results research Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
Mutations in the hairless gene cause a rare form of permanent hair loss.
research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research 475 Paraoxonase 1 (PON1) L55M and Q192R polymorphisms, lipid profiles and psoriasis
The PON1 192R gene variant is linked to a higher risk of psoriasis and heart disease in Western Mexico.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
A specific gene mutation causes severe skin and nail issues and hair loss.
research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Variant PADI3 in Central Centrifugal Cicatricial Alopecia
Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
research Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Androgenetic alopecia and polymorphism of the androgen receptor gene (SNP rs6152) in patients with benign prostate hyperplasia or prostate cancer
Hair loss gene linked to prostate issues.
research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research LPA-producing enzyme PA-PLA1α regulates hair follicle development by modulating EGFR signalling
The enzyme PA-PLA1α is important for proper hair follicle development.
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome
A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
research Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis
Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
research PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect
A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.
research Finding bald spots on chromosome 20p11
New genes linked to male pattern baldness were found on chromosome 20p11.
research Fine Mapping and Identifying the Mutation Gene of snthr -1Bao ScantHair Mouse
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease
Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.