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This description of dystrophy hypotrichosis associated with juvenile macular dystrophy provides an overview of this rare disorder characterized by short hair from birth and progressive loss of central vision but reports no new findings.

This study found that betibeglogene autotemcel significantly improved transfusion independence in 89% of patients with transfusion-dependent beta-thalassemia, although the high cost and manufacturing challenges may limit widespread adoption.

This study found that Dab2 conditional knockout mice experienced delayed hair follicle cycles and reduced hair follicle stem cell activity, suggesting Dab2's crucial role in regulating stem cell activation and anti-aging process in hair follicles.

The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.

This study found that the truncated hHb1-DeltaN transcript in breast cancer cells is produced by a cryptic intron promoter and responds to DNA demethylation, potentially altering cancer cell adhesion.

This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.

This study found that human TMEM2 does not function as a hyaluronidase but is involved in regulating hyaluronan metabolism.

In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.

This study found that the ID2 gene was highly expressed in bulge-derived keratinocytes when exposed to contact sensitizers and may serve as a marker to distinguish sensitizers from irritants during in vitro testing.

This review summarizes current knowledge about Birt–Hogg–Dubé syndrome, discussing recent findings on its pathogenesis and treatment, but reports no new clinical results; the authors emphasize understanding its cutaneous manifestations.

This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.

This study found a rare germline mutation in the Birt–Hogg–Dubé gene in a Japanese patient with renal cell carcinoma, suggesting distinct biological features and challenging current renal tumor classifications.

This study found that BMP-2 activates Dlx3 gene transcription in murine keratinocytes by binding with Smad1/Smad4, suggesting a mechanism for BMP signaling's role in skin and hair follicle regulation.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

This study found that breast carcinomas ectopically express a truncated form of hHb1 mRNA, which is associated with epithelial cell transformation.

This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.

This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.

This case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.

This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.

This study found that histidine decarboxylase is crucial for the hair-inducing ability of newborn mouse dermal cells, with its expression significantly decreasing in the first few days after birth.

This report describes a clinical case of a 38-year-old man diagnosed with Birt-Hogg-Dubé syndrome, confirmed by genetic testing, highlighting the presentation of multiple renal tumors and bilateral lung cysts.

hHb1, hHb3, and hHb6 mRNAs start expressing at the same time in hair follicles.

This study found that the NHD domain, but not the PHD domain, of hPygo2 is crucial for Wnt-independent growth of ovarian cancer cells, and identified a key interaction with Treacle protein involved in ribosomal biogenesis.

In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.

This study found that loss of the folliculin protein delays transferrin receptor recycling, leading to iron deficiency and suggesting a role in the mechanisms of Birt-Hogg-Dubé syndrome.

In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.

This study found a novel R430Q gene mutation in hHb6, which may be linked to the hereditary hair disorder monilethrix in the examined family.

This study reports that gastrointestinal problems, such as intractable diarrhea and enterocolitis, can dominate the clinical course of patients with Hoyeraal-Hreidarsson syndrome and may occur before hematological and immunological symptoms.

This study identified complex regulatory elements and interactions involving the Hr gene and HR protein that are crucial for hair follicle formation and cycling in mammals.

This abstract discusses two types of hereditary vitamin D metabolism defects, VDDR I and VDDR II, and reports on their distinct characteristics and treatment responses, without presenting new clinical data.