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This study found that early biochemical screening and molecular confirmation are crucial for distinguishing profound from partial biotinidase deficiency, which supports timely treatment and management in symptomatic children.

In this study, researchers found that shorter CA repeats in the ERbeta gene are correlated with PSA expression, and PSA immunoexpression is associated with increased disease-free survival in breast cancer.

This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.

This study reported a series of eight children with hereditary vitamin D-resistant rickets in Tunisia, identifying both common and novel mutations in the vitamin D receptor gene, and noting significant improvement with intravenous calcium treatment in most patients.

This study found that DEFB1 polymorphisms, specifically the rs1800972 CG and GG genotypes, may predict susceptibility to and severity of alopecia areata.

In this study, physiological levels of free T3 significantly enhanced the survival of human hair follicles in vitro.

This study found that both genome-wide screening methods identified the VTRNA2-1 epiallele as highly responsive to environmental influences, suggesting a link between early embryonic environment, epigenetic changes, and human disease.

This study found that rare germline pathogenic variants in BRCA2, BRCA1, and ATM are associated with increased risk of aggressive prostate cancer.

This study found two recurrent missense mutations in the hHb6 gene associated with monilethrix in families from Russia and Colombia, supporting their role in this hair disorder worldwide.

This article discusses the human KRT72 wild-type allele's role in hair formation and reports no new research findings.

This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.

This paper reviews genome-based personalized medicine developments using Web services for analyzing SNPs in reproductive potential but reports no new clinical findings.

This case report describes a Thai male with TRPS1 who exhibited unique and unreported features such as hypoplastic mandibular condyles, double mental foramina, and distinctive hair abnormalities.

This study describes a Japanese family with monilethrix and found no clear genotype/phenotype correlation in cases with the E413K mutation in hHb6.

This study presents a rare case where a patient with a heterozygous mutation in the HTRA1 gene, typically considered non-pathogenic, exhibited severe symptoms and typical features of CARASIL, expanding the understanding of this condition.

This study describes a co-dominant E410D mutation in keratin hHb6 associated with severe hair loss and extensive papules in homozygous individuals, with variable expression in heterozygous family members.

This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.

This article reviews genetic mutations linked to monilethrix, a hereditary hair disorder, and reports no new clinical findings on the condition's variability in symptoms and severity.

This study reported genetic mutations in trichilemmal carcinoma similar to those found in other skin cancers, including TP53 mutations associated with aggressive disease.

This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.

This study identified a severe MBTPS2 gene mutation in a Japanese patient with IFAP syndrome, suggesting other factors may influence the varied clinical severity of the condition.

This study found that HtrA2 inactivation in mnd2 mice is associated with delayed hair cycle phases and growth retardation of adipocytes, suggesting HtrA2's role in regulating adipogenesis-related hair growth.

In this study using mice with specific gene knockouts, both farnesyltransferase and geranylgeranyltransferase-I were found to be essential for the proliferation and survival of skin keratinocytes.

This study suggests that a newly identified KRT 71 gene variant may be responsible for curly hair in Curly Coated Retrievers and potentially contributes to follicular dysplasia.

In this study, researchers identified a unique Arg30stop mutation in the vitamin D receptor gene that causes hereditary vitamin D-resistant rickets in a young French-Canadian boy by truncating the receptor and causing hormone resistance.

This study describes a mouse model for Marie Unna Hereditary Hypotrichosis, identifying mutations in the hairless gene that result in sparse or absent hair and cyst-like hair follicles.

In this study, researchers observed that twins with a novel de novo nonsense variant in HRAS exhibited distinctive features, including neuropsychiatric symptoms, potentially indicating a wider clinical spectrum for conditions known as RASopathies.

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.