Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study reports a unique case of common variable immunodeficiency with autoimmunity linked to a heterozygous S250C variant in the autoimmune regulator gene, suggesting a potential molecular basis for this combination.

This review examines host factors like ACE2 and TMPRSS2 in SARS-CoV-2 infection, exploring how genetic variants and advanced cellular analyses might clarify COVID-19's severity and heterogeneity; it reports no new results.

A missing mK6irs1 gene causes hair loss in mice.

This study identified mutations in the FGF5 gene as a cause of extreme eyelash growth in Pakistani families, highlighting a potential target for regulating eyelash growth.

This study identified a new gene involved in woolly hair by linking a homozygous variant in KRT25 to autosomal recessive woolly hair in two Pakistani families.

This study found that the Siberian sunshine tabby coat modification is associated with a specific CORIN gene variant, suggesting a genetic basis for this golden phenotype in cats.

Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.

This study identified a new genetic variant in the KRT71 gene responsible for a breed-specific form of hypotrichosis in Hereford cattle, potentially serving as a model for similar human conditions.

This study found that both natural and environmental selection have significantly influenced the goat genome, revealing genetic loci tied to adaptation, fitness, and productive traits, more so than artificial selection, across various goat populations.

This study identified a novel homozygous mutation in the 5'-UTR of the POMC gene, suggesting a new molecular mechanism for the syndrome of adrenal insufficiency, obesity, and red hair.

This study found that the wavy coat trait in Nakano cataract mice is polygenic, involving major and minor genes, and resembles human curly scalp hair associated with the PRSS53 gene alteration.

This study identified genetic loci and pathways associated with long hair growth in the Tianzhu white yak, providing new insights into the genetic mechanisms of this trait.

In this study, the SRD5A2 rs523349 polymorphism was significantly associated with an increased risk of miscarriage, particularly during the second trimester.

This study explored the genetic basis of fiber diameter in alpacas, identifying candidate genomic regions including four significant areas on VPA6, VPA9, VPA29, and an unassigned scaffold, using whole genome association analysis and a custom SNP microarray.

This study found that trichoscopy can diagnose genetic hair shaft abnormalities without plucking or cutting hair, by visualizing characteristic features in a single session.

This case report presents the first genetically confirmed case of acrodermatitis enteropathica in Korea, identifying compound heterozygous mutations in the SLC39A4 gene in an 8-month-old boy.

This review highlights the significant role of next-generation sequencing in uncovering the genetic basis of hair disorders, identifying 28 nonsyndromic conditions linked to specific genes.

This study reported that the Undiagnosed Disease Program at Ghent University Hospital successfully provided definite diagnoses for 18% of referred adults with suspected rare diseases, primarily through genomic technologies.

This study identified multiple genetic variants in Pakistani families with oculocutaneous albinism, including two novel variants, enhancing understanding of its genetic basis and aiding better management and counseling.

This study identified eight mutations in five genes associated with different aspects of ichthyosis among Tunisian patients, enhancing understanding of its genetic and clinical diversity.

This study found that biotin deficiency in mice led to reduced zinc levels, disappearance of epidermal Langerhans cells, and increased ATP production, resulting in prolonged irritant contact dermatitis.

A novel mutation in the SLC39A4 gene was identified in an infant with mild, incomplete acrodermatitis enteropathic symptoms, suggesting genetic testing is beneficial even without the full symptom triad.

This study illustrates the severe neonatal clinical presentation of Netherton syndrome, which can be fatal despite intensive care, highlighting a specific homozygous mutation (c.1431-12G > A) associated with lethal cases.

This study observed that numerical chromosomal aberrations were more common in men with severe male factor infertility and azoospermia compared to those with other sperm quality issues, while chromosomal translocations were significantly associated with oligoasthenozoospermia, highlighting important genetic counseling considerations.

This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.

This case report describes a 27-year-old pregnant woman with Werner9s syndrome and uncontrolled hypertension, resulting in her death during an emergency caesarean section, though her baby survived and tested negative for the condition.

The researchers reported finding a recessive nonsense variant in the EGFR gene responsible for perinatal lethality in the "Blonde d'Aquitaine" cattle breed, prompting the development of a screening test to help eradicate this genetic flaw.

This study identified genetic variants in the Trichohyalin gene that account for approximately 6% of the variance in hair morphology among Australians of European descent.

This study identified genetic mutations linked to congenital ichthyosis in families from the UAE and Turkey, revealing a connection between keratinization disorders and impaired filaggrin processing.

The researchers found that corneodesmosin is crucial for maintaining skin barrier integrity and hair follicle architecture in mice, with its deletion leading to severe skin and hair abnormalities.