Cortical processing of discrete prosodic patterns in continuous speech.

Prosody has a vital function in speech, structuring a speaker's intended message for the listener. The superior temporal gyrus (STG) is considered a critical hub for prosody, but the role of earlier auditory regions like Heschl's gyrus (HG), associated with pitch processing, remains unclear. Using intracerebral recordings in humans and non-human primate models, we investigated prosody processing in narrative speech, focusing on pitch accents-abstract phonological units that signal word prominence and communicative intent.

Database of word-level statistics for Mandarin Chinese (DoWLS-MAN).

In this article we present the Database of Word-Level Statistics for Mandarin Chinese (DoWLS-MAN). The database addresses the lack of agreement in phonological syllable segmentation specific to Mandarin by offering phonological features for each lexical item according to 16 schematic representations of the syllable (8 with tone and 8 without tone). Those lexical statistics that differ per phonological word and nonword due to changes in syllable segmentation are of the variant category and include subtitle lexical frequency, phonological neighborhood density measures, homophone density, and network science measures.

The neural processing of pitch accents in continuous speech.

Pitch accents are local pitch patterns that convey differences in word prominence and modulate the information structure of the discourse. Despite the importance to discourse in languages like English, neural processing of pitch accents remains understudied. The current study investigates the neural processing of pitch accents by native and non-native English speakers while they are listening to or ignoring 45 min of continuous, natural speech.

Focus Marking and Prosodic Boundary Strength in French.

Background/aims: In French, the size of a focus constituent is not reliably marked through pitch accent assignment as in many stress accent languages. While it has been argued that the distribution of lower-level prosodic boundaries plays a role, this is at best a weak cue to focus, leaving open the question of whether other marking strategies are available. In this study, we assess whether the right edge of a contrastive focus constituent is marked by differences in prosodic boundary strength.

The Status of the Initial Rise as a Marker of Focus in French.

This study addresses the relationship between information structure and intonation in French. Using an interactive speech production experiment, it tests the hypothesis that the French initial rise (LHi) is used to mark the left edge of a contrastively focused constituent. Since the occurrence of the initial rise is also known to be sensitive to the length of an Accentual Phrase (AP), AP length was manipulated within the same experiment in a 2 x 2 design.

Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.

Background: SOX9 mutations cause the skeletal malformation syndrome campomelic dysplasia in combination with XY sex reversal. Studies in mice indicate that SOX9 acts as a testis-inducing transcription factor downstream of SRY, triggering Sertoli cell and testis differentiation. An SRY-dependent testis-specific enhancer for Sox9 has been identified only in mice.

Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.

Bloom syndrome (BS) is caused by homozygous or compound heterozygous mutations in the RecQ DNA helicase gene BLM. Since the molecular isolation of BLM, characterization of BS-causing mutations has been carried out systematically using samples stored in the Bloom's Syndrome Registry. In a survey of 134 persons with BS from the Registry, 64 different mutations were identified in 125 of them, 54 that cause premature protein-translation termination and 10 missense mutations.

Evaluation of short stature, carbohydrate metabolism and other endocrinopathies in Bloom's syndrome.

Aims: To obtain an understanding of the etiology of proportional dwarfism and endocrinopathies of Bloom's syndrome BS.

Methods: Admission for 5-day periods to an NIH-supported Clinical Research Center of a randomly selected population of persons with BS (n = 11; mean age 11.5 years, range 9 months to 28.

Evidence that xeroderma pigmentosum cells do not perform the first step in the repair of ultraviolet damage to their DNA. 1969.

Xeroderma pigmentosum (XP) is a recessively transmitted disorder of man characterized by increased sensitivity to ultraviolet light. Homozygous, affected individuals, upon exposure to sunlight, sustain severe damage to the skin; this damage is characteristically followed by multiple basal and squamous cell carcinomas and not uncommonly by other malignant neoplasia. A tissue culture cell line was derived from the skin of a man with XP.

Association and regulation of the BLM helicase by the telomere proteins TRF1 and TRF2.

In addition to increased DNA-strand exchange, a cytogenetic feature of cells lacking the RecQ-like BLM helicase is a tendency for telomeres to associate. We also report additional cellular and biochemical evidence for the role of BLM in telomere maintenance. BLM co-localizes and complexes with the telomere repeat protein TRF2 in cells that employ the recombination-mediated mechanism of telomere lengthening known as ALT (alternative lengthening of telomeres).

Enhanced tumor formation in mice heterozygous for Blm mutation.

Persons with the autosomal recessive disorder Bloom syndrome are predisposed to cancers of many types due to loss-of-function mutations in the BLM gene, which encodes a recQ-like helicase. Here we show that mice heterozygous for a targeted null mutation of Blm, the murine homolog of BLM, develop lymphoma earlier than wild-type littermates in response to challenge with murine leukemia virus and develop twice the number of intestinal tumors when crossed with mice carrying a mutation in the Apc tumor suppressor. These observations indicate that Blm is a modifier of tumor formation in the mouse and that Blm haploinsufficiency is associated with tumor predisposition, a finding with important implications for cancer risk in humans.