research This Month in the Journal
The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
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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 Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
research A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
research A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats
A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
research The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer’s disease
Researchers found two new genetic variants linked to Alzheimer's disease.
research Independent DSG4 frameshift variants in cats with hair shaft dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82
Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
research Genome-wide association study of skin complex diseases
Genetic variants linked to ten skin diseases were found, showing both immune and non-immune factors play a role.
research Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form
A genetic change in the EDAR gene causes the unique hair traits found in East Asians.
research Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
research Dissection of genetic variation and evidence for pleiotropy in male pattern baldness
Male pattern baldness is mostly inherited, involves many genes, and is linked to other traits like early puberty and strong bones.
research Relationship between betacoronaviruses and the endocrine system: a new key to understand the COVID-19 pandemic—A comprehensive review
Betacoronaviruses, like COVID-19, may cause hormone system dysfunction and affect disease susceptibility and severity.
research Why Do Not All Chemotherapy Patients Lose Their Hair? Answering an Intriguing Question
Chemotherapy patients don't all lose their hair due to factors like hair growth rates, age, genetics, and the type of drugs used.
research Genetics of Polycystic Ovary Syndrome
PCOS has a strong genetic basis, but more research is needed to fully understand it.
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss
Rare genetic variants in five specific genes are linked to male-pattern hair loss but only account for a small part of the risk.
research Genetic variants in androgenetic alopecia: insights from scalp RNA sequencing data
Certain genetic variants and pathways are linked to hair loss.
research Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis
Certain gene variants can influence acne risk and severity.
research An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.
research Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans
Common variants in the Trichohyalin gene are linked to straight hair in Europeans.
research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Structural and epistatic regulatory variants cause hallmark white spotting in cattle
Two gene variants cause white spots in cattle.
research Novel associations of VPS13C with phenotype and conversion of idiopathic REM sleep behavior disorder
VPS13C variants are linked to more severe REM sleep disorder and faster progression to Parkinson's disease.
research The role of candidate pharmacogenetic variants in determining valproic acid efficacy, toxicity and concentrations in patients with epilepsy
Genetic variants can affect valproic acid's effectiveness, side effects, and levels in epilepsy treatment.
research Genetic Variants and Protective Immunity against SARS-CoV-2
Genetic differences affect how people respond to COVID-19.
research Food Administration and Not Genetic Variants Causes Pharmacokinetic Variability of Tadalafil and Finasteride
Food intake, not genetics, affects how the body processes tadalafil and finasteride.
research Discovery of Four New FGF5 Variants Causing Long Hair in the Dog
Four new FGF5 gene variants cause long hair in dogs.