Publications by authors named "Betz R"

The title compound, CHO, is an α-hy-droxy-carb-oxy-lic acid whose ortho-rhom-bic polymorph has been reported earlier [Qiu (2007 ▸). , , 1819-1824]. The asymmetric unit contains two complete mol-ecules.

View Article and Find Full Text PDF

The solvated title compound, (CHP)[CoCl(CHP)]·2CH, is the tri-phenyl-phospho-nium salt of an anionic Co chlorido coordination compound; the asymmetric unit features an ion-pair and two benzene solvent molecules. One of the solvent mol-ecules shows rotational disorder. C-H⋯Cl and P-H⋯Cl contacts connect the individual constituents into infinite chains extending parallel to [010].

View Article and Find Full Text PDF

The title compound, CHClOP, is the symmetric phosphate derived from -chloro-phenol and phospho-ric acid. Two of the three aromatic moieties adopt -orientation towards the P=O bond while the last chloro-phenol ring is pointing away from this bond. In the extended structure, C-H⋯O bonds connect the individual mol-ecules into sheets lying perpendicular to the crystallographic axis.

View Article and Find Full Text PDF
Article Synopsis
  • Autosomal recessive dystrophic epidermolysis bullosa (RDEB) is a severe inherited skin disorder caused by mutations in a specific gene, presenting with symptoms like skin erosions and atrophic scars.
  • A study of a four-generation consanguineous family identified a harmful genetic mutation, c.409C>T (p.Arg137*), in two patients with RDEB through whole exome sequencing (WES).
  • The findings highlight the importance of WES in diagnosing complex genetic diseases and contribute to understanding the mutation spectrum of the gene in different populations.
View Article and Find Full Text PDF
Article Synopsis
  • - The compound discussed is called pyridinium 4-methyl-benzene-sulfonate, which is a salt derived from p-toluene-sulfonic acid.
  • - In its crystal structure, it features classical hydrogen bonds (N-H⋯O) and C-H⋯O interactions linking the positive (cationic) and negative (anionic) parts of the molecule.
  • - These interactions create sheets of the compound that are arranged parallel to a specific plane within the crystal.
View Article and Find Full Text PDF

Most plants in natural ecosystems associate with arbuscular mycorrhizal (AM) fungi to survive soil nutrient limitations. To engage in symbiosis, AM fungi secrete effector molecules that, similar to pathogenic effectors, reprogram plant cells. Here we show that the Glomeromycotina-specific SP7 effector family impacts on the alternative splicing program of their hosts.

View Article and Find Full Text PDF
Article Synopsis
  • * A 3-year study, TRANSLATE NAMSE, analyzed data from 1,577 patients, revealing that 32% received molecular diagnoses involving 370 distinct causes, primarily uncommon.
  • * The research showed that combining next-generation sequencing with advanced phenotyping methods improved diagnostic efficiency and helped identify new genotype-phenotype associations, particularly in neurodevelopmental disorders.
View Article and Find Full Text PDF
Article Synopsis
  • Monilethrix is a rare genetic hair disorder characterized by fragile hair with a beaded structure and potential keratosis pilaris or nail issues, linked to mutations in specific genes (KRT81, KRT83, KRT86 for dominant forms; DSG4 for recessive).
  • This study aimed to uncover new genetic mutations in families with unexplained cases of autosomal-dominant monilethrix and to explore how these variants disrupt cell function.
  • Through exome sequencing, researchers identified a significant mutation (c.1081G>T) in the KRT31 gene that affects keratin production, resulting in altered protein structure and function, confirmed through various laboratory techniques.
View Article and Find Full Text PDF

Atrichia with papular lesions (APL) is a hair abnormality characterized by loss of hair on the scalp and rest of the body. In a few cases, hair loss is accompanied by the appearance of keratotic papules on the body. It is inherited in an autosomal recessive manner.

View Article and Find Full Text PDF
Article Synopsis
  • Malignant sweat gland tumors, particularly eccrine porocarcinoma (EP), are rare, with about 18% of benign eccrine poroma (EPO) cases progressing to EP, highlighting a need for more understanding of EP biology and mutations involved in this transformation.
  • Transcriptome profiling of 23 EP and normal skin samples showed significant gene expression diversity and downregulation in EP, including specific genes that indicated a stepwise transition from normal skin to EPO to EP.
  • The study suggests that EP has a complex molecular nature linked to tumor development, with potential involvement of the p53 and EGFR pathways, and calls for further research with larger sample sizes to validate these findings.
View Article and Find Full Text PDF

Importance: Current measures of alopecia areata (AA) severity, such as the Severity of Alopecia Tool score, do not adequately capture overall disease impact.

Objective: To explore factors associated with AA severity beyond scalp hair loss, and to support the development of the Alopecia Areata Severity and Morbidity Index (ASAMI).

Evidence Review: A total of 74 hair and scalp disorder specialists from multiple continents were invited to participate in an eDelphi project consisting of 3 survey rounds.

View Article and Find Full Text PDF

The title compound (systematic name: -2-hydroxy-3-methylbutanoic acid), CHO, is the constitutional isomer of α-hy-droxy-butanoic acid. In the crystal, hydrogen bonds involving the alcoholic hydroxyl group give rise to centrosymmetric dimers that are extended to sheets perpendicular to the crystallographic axis.

View Article and Find Full Text PDF

The title compound, CHO, is a symmetric diol derived from the pinacol coupling of cyclo-hexa-none. The asymmetric unit contains three complete mol-ecules. The cyclo-hexane moieties adopt chair conformations.

View Article and Find Full Text PDF

Uncombable hair syndrome is a rare hair shaft anomaly presenting in childhood with blond, frizzy, and unruly hair. This case report presents a 9-year-old boy with remarkable hair where the mother, after reading a medical paper on hair shaft anomalies, suspected uncombable hair syndrome. She reached out to the author group, and the employment of molecular genetics later confirmed the diagnosis of uncombable hair syndrome.

View Article and Find Full Text PDF

Background: Short anagen hair (SAH) is a rare paediatric hair disorder characterized by a short anagen phase, an inability to grow long scalp hair and a negative psychological impact. The genetic basis of SAH is currently unknown.

Objectives: To perform molecular genetic investigations in 48 individuals with a clinical phenotype suggestive of SAH to identify, if any, the genetic basis of this condition.

View Article and Find Full Text PDF

Alopecia areata (AA) is a common autoimmune-mediated hair loss disorder in humans with an estimated lifetime risk of approximately 2 %. Episodes of hair loss usually begin with isolated hairless patches that may progress to complete hair loss over the entire body. A familial occurrence of AA is well established, with recurrence risks of about 6-8 % in first-degree relatives.

View Article and Find Full Text PDF

Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by coarse, wiry, and twisted hair developing during early childhood, and followed by progressive hair loss with puberty. We report a sporadic case of a 4-year-old boy with clinical features suggestive of MUHH, in whom we identified the new pathogenic variant c.67C>T; p.

View Article and Find Full Text PDF