Search

We present images taken using the Gemini South Adaptive Optics Imager (GSAOI) with the Gemini Multi-conjugate Adaptive Optics System (GeMS) in three 2 arcmin2 fields in the Spitzer Extragalactic Representative Volume Survey. These GeMS/GSAOI observations are among the first ≈0.″1 resolution data in the near-infrared spanning extragalactic fields exceeding 1.′5 in size. We use these data to estimate galaxy sizes, obtaining results similar to those from studies with the Hubble Space Telescope, though we find a higher fraction of compact star-forming galaxies at z > 2. To disentangle the star-forming galaxies from active galactic nuclei (AGNs), we use multiwavelength data from surveys in the optical and infrared, including far-infrared data from Herschel, as well as new radio continuum data from the Australia Telescope Compact Array and Very Large Array. We identify ultraluminous infrared galaxies (ULIRGs) at z ∼ 1–3, which consist of a combination of pure starburst galaxies and AGN/starburst composites. The ULIRGs show signs of recent merger activity, such as highly disturbed morphologies and include a rare candidate triple-AGN. We find that AGNs tend to reside in hosts with smaller scale sizes than purely star-forming galaxies of similar infrared luminosity. Our observations demonstrate the potential for MCAO to complement the deeper galaxy surveys to be made with the James Webb Space Telescope. [ABSTRACT FROM AUTHOR]

Small registers of spin qubits in silicon can exhibit hour-long coherence times and exceeded error-correction thresholds. However, their connection to larger quantum processors is an outstanding challenge. To this end, spin qubits with optical interfaces offer key advantages: they can minimize the heat load and give access to modular quantum computing architectures that eliminate cross-talk and offer a large connectivity. Here, we implement such an efficient spin-photon interface based on erbium dopants in a nanophotonic resonator. We demonstrate optical single-shot readout of a spin in silicon whose coherence exceeds the Purcell-enhanced optical lifetime, paving the way for entangling remote spins via photon interference. As erbium dopants can emit coherent photons in the minimal-loss band of optical fibers, and tens of such qubits can be spectrally multiplexed in each resonator, the demonstrated hardware platform offers unique promise for distributed quantum information processing based on scalable, integrated silicon devices., Competing Interests: Competing interests: The authors declare no competing interests., (© 2024. The Author(s).)

Autosomal recessive hypotrichosis simplex (ARHS) manifests with paucity of hair appearing during early childhood. We assessed four affected families. We initially genotyped three of these families for a panel of microsatellite markers spanning all ARHS-associated loci and obtained data suggesting linkage to 3q27, encompassing LIPH, which had previously been shown to be associated with ARHS. Accordingly, a homozygous duplication mutation in exon 2 of this gene (c.280_369dup; p.Gly94_Lys123dup) was found to segregate with the disease in all the families. Through the identification of the first duplication mutation in the human LIPH gene, we provide further evidence supporting a role for the phospholipase signalling pathway in hair growth and differentiation.

Alopecia areata (AA) is a common dermatological disease, which affects nearly 2% of the general population. Association of AA with atopic disease has been repeatedly reported. Loss-of-function mutations in the filaggrin gene (FLG) may be considered as promising candidates in AA, as they have been observed to be a strong risk factor in atopic dermatitis. The FLG mutations R501X and 2282del4 were genotyped in a large sample of AA patients (n=449) and controls (n=473). Although no significant association was observed in the patient sample overall, FLG mutations were significantly associated with the presence of atopic dermatitis among AA patients. Furthermore, the presence of FLG mutations had a strong impact on the clinical course of AA in comorbid patients. For example, 19 of the 22 mutation carriers among AA patients with atopic dermatitis showed a severe form of the disease (P=0.003; odds ratio (OR)=5.47 (95% confidence interval (CI): 1.59-18.76)). In conclusion, our data suggest that when AA occurs in conjunction with FLG-associated atopic disorder, the clinical presentation of AA may be more severe.

Congenital atrichia (AUC) is a form of isolated alopecia with an autosomal recessive mode of inheritance. Patients are born with normal hair but this is shed almost completely during the first weeks or months of life and never regrows. In many families the development of papular lesions is noted as an additional phenotypic feature, which defines a related phenotype designated as atrichia with papular lesions (APL). Using positional cloning strategies and the molecular findings in hairless recessive (hr/hr) mice, an animal model for AUC, mutations in the human hairless gene (HR) have been identified as a cause of AUC and APL. To date, more than 20 different mutations of the HR gene have been reported in AUC and APL including different mutation types scattered over the entire HR gene length. In this report, we describe two families of Saudi Arabian and Jewish Iranian origin comprising a number of individuals with clinical features suggestive of AUC. We therefore hypothesized that affected members may carry mutations in the HR gene. After sequencing the complete coding region of the HR gene in the Saudi Arabian family, we identified a homozygous insertion of a G (c.2661dupG; p.Thr888DfsX38) in exon 12, resulting in a premature stop codon. In a Jewish Iranian patient, we identified a homozygous splice site mutation c.1557-1G > T in intron 4. The latter mutation has been previously reported in a compound heterozygous state. In the present report, we describe the second exonic insertion mutation in the human HR gene and the first mutation in exon 12. Our study emphasizes the importance of sequencing the complete coding sequence and exon/intron junctions in the molecular diagnostics of AUC and APL.

A recent study has suggested that the g.961C >G (p.Ser278Arg) variant of the autoimmune regulator (AIRE) gene contributes to susceptibility to alopecia areata (AA). We attempted to replicate this finding using a case-control sample of Belgian-German origin (273 patients and 283 controls). Despite adequate power, our study results do not support a significant association of the risk allele in our AA patient sample. This remained the case when we stratified our sample according to severity and family history of disease. Our study results do not support the hypothesis that the g.961C >G (p.Ser278Arg) polymorphism of the AIRE gene is associated with an increased risk for AA.

Background: Hypotrichosis simplex of the scalp (HSS; MIM 146520) is a rare autosomal dominant form of non-syndromic alopecia that affects men and women equally. Up to now, only a small number of families with HSS have been reported. The affected individuals experience a diffuse progressing hair loss from childhood to adulthood that is confined to the scalp. Recently, HSS has been mapped to the short arm of chromosome 6 (6p21.3), allowing mutations in the corneodesmosin gene (CDSN) to be identified as the cause of the disorder. To date, two stop mutations have been found in three unrelated families with HSS of different ethnic origin., Objectives: To describe the first HSS-family with Latin American (Mexican) background comprising 6 generations and to identify a mutation in the CDSN gene., Patients/methods: The patients were examined by a clinician and blood samples were taken. After DNA extraction, sequencing analysis of the CDSN gene and restriction enzyme analysis with PsuI were performed., Results: By direct sequencing of the two exons of the CDSN gene, a nonsense mutation was identified in the index patient in exon 2, resulting in a premature stop codon (Y239X). The mutation co-segregates perfectly in the family with the disease and was not found in 300 control chromosomes using a restriction enzyme analysis with PsuI., Conclusions: A nonsense mutation was identified in the first family with HSS of Latin American ethnical background. Our data provide molecular genetic evidence for a 3rd stop mutation in exon 2 of the CDSN gene being responsible for HSS. All to date known nonsense mutations responsible 3 for HSS are clustered in a region of 40 amino acids which is in accordance with a dominant negative effect conferred by aggregates of truncated CDSN proteins.