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.
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60-90 / 1000+ resultsresearch Le mélanome malin bilatéral de l'uvée
Apoptosis in hair follicles spreads through cell death signals, with stem cells slowing the process.
research Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
research Independent genomewide screens identify the tumor suppressor VTRNA2-1 as a human epiallele responsive to periconceptional environment
The environment around the time of conception can change the VTRNA2-1 gene in a way that lasts for years and may affect disease risk.
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research 210 THE NEW APPROACH TO EARLY DIAGNOSIS OF ADENOMYOSIS
A new method can almost perfectly distinguish adenomyosis from similar conditions using blood tests.
research FOXN 1 Duplication and Congenital Hypertrichosis
FOXN1 duplication can cause excessive hair growth.
research Concurrence of alopecia areata and vitiligo at the same anatomical site
An 8-year-old boy had both alopecia areata and vitiligo on the same spot on his scalp, which is very rare.
research Clinical and trichoscopic characteristics of temporal triangular alopecia: A multicenter study
Temporal triangular alopecia is a non-scarring hair loss in children, often linked to other health conditions.
research Reply
The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
research Congenital Triangular Alopecia
Congenital triangular alopecia is a harmless, non-spreading hair loss condition often seen in young children.
research Polarized microscopy in genetic hair disorders: case series
Polarized microscopy helps identify hair irregularities in genetic disorders.
research A Case of Congenital Alopecia Areata Successfully Diagnosed by Integrating Clinical, Trichoscopic, and Scalp Biopsy Findings
Scalp biopsies are essential for diagnosing congenital alopecia areata.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research The association between rs2476601 polymorphism in PTPN22 gene and risk of alopecia areata
The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.
research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research An Australian family with macular dystrophy linked to autosomal recessive alopecia universalis
An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Consider NF1 in newborns with rare congenital anomalies.
research 353 Alopecia as a Symptom of Neonatal Lupus
Alopecia can be a symptom of Neonatal Lupus.
research Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome
Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
research Eruptive vellus hair cysts: an original case occurring in twins
Twins had rare skin cysts likely due to genetics.
research Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research Variable Clinical Features of Temporal Triangular Alopecia
Temporal triangular alopecia may be linked to sebaceous nevus and shows a new pinkish background feature.
research FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
research Defective trophoblast function in mice with a targeted mutation of Ets2
Ets2 gene is crucial for placental development in mice.
research Candidate Gene Analysis Of Alopecia Areata In Jordanian Population Of Arab Descent: A Case–Control Study
The study found that a specific genetic variation in the TNFα gene is significantly linked to Alopecia Areata in the Jordanian Arab population.
research The spotted lunula
Alopecia areata can cause spotty white areas on nails.